A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647161



Internal ID7033902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46117217..46122216hg38UCSC Ensembl
chr21:47537131..47542130hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16345271, essv16345214, essv16345319, essv16345272, essv16345283, essv16345296, essv16345278, essv16345257, essv16345314, essv16345291, essv16345238, essv16345310, essv16345315, essv16345237, essv16345255, essv16345301, essv16345211, essv16345298, essv16345251, essv16345242, essv16345323, essv16345259, essv16345275, essv16345225, essv16345288, essv16345308, essv16345273, essv16345322, essv16345274, essv16345280, essv16345267, essv16345263, essv16345221, essv16345321, essv16345218, essv16345297, essv16345227, essv16345262, essv16345294, essv16345245, essv16345248, essv16345224, essv16345265, essv16345270, essv16345246, essv16345219, essv16345281, essv16345239, essv16345295, essv16345226, essv16345313, essv16345258, essv16345316, essv16345233, essv16345236, essv16345247, essv16345304, essv16345241, essv16345302, essv16345260, essv16345284, essv16345320, essv16345230, essv16345287, essv16345282, essv16345292, essv16345303, essv16345213, essv16345264, essv16345222, essv16345286, essv16345276, essv16345216, essv16345217, essv16345269, essv16345312, essv16345250, essv16345307, essv16345235, essv16345285, essv16345252, essv16345244, essv16345317, essv16345240, essv16345228, essv16345318, essv16345289, essv16345279, essv16345324, essv16345220, essv16345253, essv16345223, essv16345290, essv16345305, essv16345232, essv16345293, essv16345300, essv16345266, essv16345249, essv16345261, essv16345277, essv16345325, essv16345234, essv16345306, essv16345215, essv16345254, essv16345311, essv16345309, essv16345268, essv16345212, essv16345256, essv16345231, essv16345229, essv16345299, essv16345243
SamplesNA18997, NA18998, HG01985, NA19701, NA20339, NA19028, NA21111, NA19794, HG02002, NA19664, NA18647, HG01348, NA19914, NA19734, HG03241, NA18979, NA18999, NA18641, NA19795, NA20298, HG02277, HG00452, NA19314, HG00097, HG02285, NA12399, NA19068, HG00356, NA12812, HG02140, HG02087, HG01277, NA19307, NA18993, NA18574, HG00355, NA21108, NA19038, HG02278, NA19922, HG00130, NA19923, NA18749, NA19041, HG00335, HG02003, HG01628, NA18560, NA18748, HG02082, NA21107, HG02138, HG02104, NA18640, NA21105, NA19027, HG02134, NA21106, NA19007, NA18645, NA19247, NA18747, NA18538, NA19707, NA18525, NA19086, NA19984, NA19184, HG02084, NA19663, NA18939, HG02497, NA21116, NA18757, HG00350, NA19031, NA19113, NA18946, HG02141, NA19740, NA18553, HG02081, HG02286, NA19625, HG01625, HG00128, NA19035, HG00407, NA19375, NA19308, HG02089, NA19309, NA18535, NA19149, NA19735, NA19435, HG01958, NA12873, NA20351, HG01623, NA19310, HG01620, HG02317, HG02139, NA12874, NA18873, HG02013, NA19726, NA19096, NA19121, NA18957, NA18740, HG00437, HG02060, HG01618
Known GenesCOL6A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647161
Frequency
Sample Size2504
Observed Gain115
Observed Loss0
Observed Complex0
Frequencyn/a


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