A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619347



Internal ID7006225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4501055..4503978hg38UCSC Ensembl
Innerchr9:4501060..4503974hg38UCSC Ensembl
Outerchr9:4501051..4503983hg38UCSC Ensembl
chr9:4501055..4503978hg19UCSC Ensembl
Innerchr9:4501060..4503974hg19UCSC Ensembl
Outerchr9:4501051..4503983hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg382924
hg192924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13383256, essv13383309, essv13383240, essv13383313, essv13383286, essv13383252, essv13383248, essv13383255, essv13383316, essv13383254, essv13383233, essv13383236, essv13383251, essv13383276, essv13383264, essv13383292, essv13383307, essv13383241, essv13383303, essv13383232, essv13383239, essv13383246, essv13383282, essv13383301, essv13383271, essv13383297, essv13383250, essv13383268, essv13383277, essv13383274, essv13383305, essv13383280, essv13383302, essv13383243, essv13383269, essv13383317, essv13383294, essv13383293, essv13383266, essv13383300, essv13383288, essv13383289, essv13383308, essv13383270, essv13383311, essv13383318, essv13383304, essv13383242, essv13383283, essv13383284, essv13383298, essv13383281, essv13383290, essv13383258, essv13383244, essv13383314, essv13383259, essv13383235, essv13383285, essv13383296, essv13383306, essv13383257, essv13383260, essv13383263, essv13383315, essv13383245, essv13383265, essv13383272, essv13383312, essv13383261, essv13383291, essv13383279, essv13383299, essv13383273, essv13383237, essv13383310, essv13383275, essv13383295, essv13383253, essv13383249, essv13383238, essv13383287, essv13383267, essv13383234, essv13383247, essv13383278, essv13383262
SamplesHG03096, NA19141, HG02610, HG02702, NA18486, HG03280, NA20332, NA20346, NA19098, HG03372, NA19314, HG03095, HG03133, NA19379, NA18519, NA19319, NA19201, HG03168, NA19448, NA18923, HG03370, NA19131, NA18916, HG03246, HG03105, HG01063, NA20287, HG03040, HG02111, HG02461, HG03195, HG02642, NA19471, HG03343, HG03120, HG02439, NA19210, HG02334, HG02582, HG02678, NA19982, NA19658, HG03027, HG02537, HG01889, NA19655, HG03202, NA19031, HG02884, HG02881, NA19338, HG03046, HG02585, NA19318, HG02332, NA19395, HG01956, NA20296, NA19017, NA19401, NA19375, NA19308, NA19309, NA19108, HG03461, HG03437, HG03367, NA19454, HG02983, NA20351, NA19380, HG03259, NA20357, NA19818, HG02970, HG03279, HG01302, HG03060, HG02768, HG03410, HG03077, NA19900, NA19030, HG02947, NA19146, NA19316, NA19312
Known GenesSLC1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619347
Frequency
Sample Size2504
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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