A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618778



Internal ID7005660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127690617..127691384hg38UCSC Ensembl
Innerchr8:127690617..127691384hg38UCSC Ensembl
Outerchr8:127690327..127691747hg38UCSC Ensembl
chr8:128702862..128703629hg19UCSC Ensembl
Innerchr8:128702862..128703629hg19UCSC Ensembl
Outerchr8:128702572..128703992hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13322313, essv13322309, essv13322341, essv13322311, essv13322337, essv13322323, essv13322318, essv13322336, essv13322345, essv13322314, essv13322310, essv13322329, essv13322328, essv13322343, essv13322344, essv13322294, essv13322338, essv13322321, essv13322302, essv13322342, essv13322281, essv13322296, essv13322335, essv13322283, essv13322334, essv13322295, essv13322306, essv13322330, essv13322316, essv13322287, essv13322297, essv13322305, essv13322327, essv13322300, essv13322324, essv13322312, essv13322299, essv13322325, essv13322298, essv13322340, essv13322319, essv13322289, essv13322333, essv13322332, essv13322320, essv13322291, essv13322304, essv13322290, essv13322322, essv13322303, essv13322284, essv13322307, essv13322293, essv13322288, essv13322315, essv13322286, essv13322292, essv13322282, essv13322339, essv13322285, essv13322301, essv13322317, essv13322308, essv13322331, essv13322326
SamplesNA18502, HG02890, HG03121, NA19204, HG01885, HG03111, HG03517, NA18881, NA18917, HG03558, NA19092, HG03521, HG03295, HG03172, HG02769, HG03436, HG02549, NA19138, HG03224, NA19904, HG03079, HG02505, NA18874, NA19917, HG03058, HG02715, HG03363, HG03291, NA19913, NA19236, HG03081, HG01889, NA19114, NA18879, NA19042, NA18499, HG02332, HG02455, HG03028, HG02282, HG03367, NA20276, HG02546, NA19037, HG01958, NA20351, HG01494, HG01108, HG03103, NA20357, HG03565, NA19248, HG03442, HG02970, NA19468, HG02053, HG02462, HG02676, NA18876, HG03077, HG03538, HG02947, NA19129, HG01886, HG03198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618778
Frequency
Sample Size2504
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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