A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594150



Internal ID6634426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209540494..209541637hg38UCSC Ensembl
Innerchr2:209540495..209541637hg38UCSC Ensembl
Outerchr2:209540494..209541638hg38UCSC Ensembl
chr2:210405218..210406361hg19UCSC Ensembl
Innerchr2:210405219..210406361hg19UCSC Ensembl
Outerchr2:210405218..210406362hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10835278, essv10835291, essv10835332, essv10835387, essv10835384, essv10835290, essv10835318, essv10835254, essv10835282, essv10835335, essv10835309, essv10835368, essv10835323, essv10835279, essv10835260, essv10835325, essv10835261, essv10835343, essv10835313, essv10835240, essv10835242, essv10835275, essv10835364, essv10835289, essv10835374, essv10835376, essv10835308, essv10835246, essv10835303, essv10835270, essv10835337, essv10835355, essv10835312, essv10835284, essv10835317, essv10835273, essv10835379, essv10835296, essv10835310, essv10835271, essv10835293, essv10835315, essv10835339, essv10835352, essv10835353, essv10835244, essv10835369, essv10835314, essv10835300, essv10835331, essv10835283, essv10835286, essv10835265, essv10835327, essv10835287, essv10835378, essv10835285, essv10835297, essv10835334, essv10835256, essv10835328, essv10835351, essv10835367, essv10835264, essv10835382, essv10835238, essv10835247, essv10835249, essv10835347, essv10835354, essv10835370, essv10835269, essv10835288, essv10835348, essv10835276, essv10835307, essv10835241, essv10835366, essv10835295, essv10835341, essv10835253, essv10835365, essv10835239, essv10835316, essv10835326, essv10835262, essv10835377, essv10835311, essv10835320, essv10835358, essv10835306, essv10835258, essv10835298, essv10835349, essv10835304, essv10835255, essv10835359, essv10835294, essv10835350, essv10835333, essv10835360, essv10835375, essv10835274, essv10835301, essv10835322, essv10835245, essv10835263, essv10835372, essv10835363, essv10835292, essv10835259, essv10835344, essv10835381, essv10835361, essv10835268, essv10835345, essv10835280, essv10835340, essv10835356, essv10835373, essv10835362, essv10835338, essv10835248, essv10835252, essv10835251, essv10835257, essv10835357, essv10835329, essv10835336, essv10835243, essv10835281, essv10835319, essv10835321, essv10835267, essv10835266, essv10835380, essv10835383, essv10835371, essv10835277, essv10835342, essv10835250, essv10835305, essv10835302, essv10835346, essv10835386, essv10835385, essv10835272, essv10835330, essv10835299, essv10835324
SamplesHG02715, HG02879, HG03163, NA19146, HG02496, NA18870, NA19248, HG02107, NA19312, HG03160, HG02810, HG03567, HG02621, HG03351, HG03521, HG00743, NA19437, NA19114, HG02546, HG03563, HG03410, HG03055, NA19149, NA20346, HG02255, HG03086, NA19223, HG02979, HG01403, HG03133, HG02952, NA19451, HG03571, HG01915, HG03311, HG02884, NA19449, HG03048, NA18489, NA19461, HG02676, HG03401, HG03548, HG03538, HG01134, HG03380, HG02976, HG03394, NA19147, HG03159, HG03049, NA18868, HG02455, HG03461, NA18912, NA19383, HG03470, NA19984, HG03451, HG03054, HG03300, NA19309, NA19917, HG00638, NA19107, HG02577, HG03578, HG01272, HG02557, HG02643, HG03241, NA18876, NA19351, HG03445, HG03464, HG01879, HG03565, NA18916, HG02595, HG03225, HG02814, HG03169, HG01111, HG03085, NA19153, HG02325, HG03190, HG03195, HG02054, NA20291, NA18498, HG02922, NA18522, HG02594, HG02804, NA18502, HG02501, HG03097, NA18504, HG03366, HG03518, HG02511, HG03069, HG03073, HG02571, HG02614, NA20355, HG01880, HG02582, HG01933, HG02570, HG03385, HG03028, NA19235, HG02947, NA19138, HG03303, HG02819, HG02645, NA18915, NA20276, HG03045, NA19116, NA20274, NA19818, HG03476, HG03081, HG02589, HG02702, HG02891, HG03259, HG02678, HG03258, HG03369, HG03077, NA19198, NA19118, HG02721, HG03060, HG03117, NA19113, HG02315, NA18908, NA19092, HG01890, HG02855, HG03460, NA19121, NA19922, HG03091
Known GenesMAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594150
Frequency
Sample Size2504
Observed Gain0
Observed Loss150
Observed Complex0
Frequencyn/a


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