A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647541



Internal ID6687596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29576108..29579446hg38UCSC Ensembl
Innerchr22:29576108..29579446hg38UCSC Ensembl
Outerchr22:29575776..29579729hg38UCSC Ensembl
chr22:29972097..29975435hg19UCSC Ensembl
Innerchr22:29972097..29975435hg19UCSC Ensembl
Outerchr22:29971765..29975718hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383339
hg193339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401315, essv16401305, essv16401255, essv16401365, essv16401347, essv16401311, essv16401281, essv16401319, essv16401382, essv16401363, essv16401325, essv16401291, essv16401266, essv16401337, essv16401249, essv16401371, essv16401360, essv16401262, essv16401344, essv16401314, essv16401359, essv16401366, essv16401268, essv16401251, essv16401280, essv16401340, essv16401288, essv16401316, essv16401372, essv16401278, essv16401296, essv16401361, essv16401385, essv16401331, essv16401269, essv16401373, essv16401283, essv16401297, essv16401285, essv16401320, essv16401257, essv16401303, essv16401250, essv16401374, essv16401275, essv16401284, essv16401252, essv16401265, essv16401376, essv16401313, essv16401263, essv16401290, essv16401309, essv16401308, essv16401350, essv16401341, essv16401348, essv16401279, essv16401336, essv16401324, essv16401377, essv16401367, essv16401364, essv16401322, essv16401300, essv16401294, essv16401277, essv16401379, essv16401302, essv16401326, essv16401380, essv16401272, essv16401333, essv16401327, essv16401358, essv16401271, essv16401375, essv16401317, essv16401383, essv16401381, essv16401287, essv16401369, essv16401352, essv16401286, essv16401329, essv16401346, essv16401384, essv16401321, essv16401306, essv16401256, essv16401270, essv16401267, essv16401254, essv16401301, essv16401378, essv16401335, essv16401343, essv16401295, essv16401307, essv16401274, essv16401282, essv16401332, essv16401299, essv16401273, essv16401304, essv16401330, essv16401292, essv16401310, essv16401264, essv16401370, essv16401355, essv16401318, essv16401276, essv16401339, essv16401351, essv16401253, essv16401357, essv16401345, essv16401293, essv16401312, essv16401328, essv16401368, essv16401349, essv16401259, essv16401362, essv16401261, essv16401342, essv16401356, essv16401323, essv16401258, essv16401298, essv16401338, essv16401289, essv16401354, essv16401260, essv16401334, essv16401353
SamplesHG02666, NA20281, HG02890, NA19146, NA19913, HG02107, HG02882, HG02810, HG02330, HG02621, HG02970, NA19222, HG02546, HG02816, HG03478, HG01444, HG03112, NA19093, HG02549, NA20346, HG02318, NA20299, HG02979, HG03189, HG03057, HG03452, HG01325, NA19923, HG02014, HG03046, HG02885, HG02887, NA19449, HG02944, HG03048, HG03458, NA19144, NA19210, HG01708, NA19017, HG03401, NA19378, HG02817, HG03538, NA18488, NA19236, HG03268, HG02433, NA19043, HG02308, NA19117, HG02836, HG02982, NA20412, HG03558, HG02053, HG02588, NA19428, HG02981, HG03470, HG02634, NA20356, HG02009, HG01122, HG02772, HG02703, HG03241, NA19351, HG03052, HG02763, HG03024, HG03100, HG03539, HG03027, HG02595, NA19190, HG03063, HG02888, HG03225, HG02840, HG02442, HG02325, HG02878, HG03190, HG02449, HG02054, HG03040, HG03391, HG01989, HG02541, NA19024, NA20348, NA18923, HG02922, HG03547, HG02337, HG02623, NA19098, HG02501, NA18504, NA19704, HG02852, HG02479, NA19307, HG02570, HG02947, NA19138, HG01405, HG02645, NA20332, NA19394, HG03045, HG02629, HG02953, HG03267, NA19099, HG01390, HG03123, NA18864, HG02837, NA19225, HG02702, NA18917, HG02679, NA19118, HG02445, HG03449, HG01985, NA18853, HG02555, NA18908, HG03517, NA19448, NA19468, HG02095, HG02820, NA19439
Known GenesNIPSNAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647541
Frequency
Sample Size2504
Observed Gain0
Observed Loss137
Observed Complex0
Frequencyn/a


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