A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610951



Internal ID6997867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138171021..138171420hg38UCSC Ensembl
Innerchr6:138171021..138171420hg38UCSC Ensembl
Outerchr6:138170704..138171680hg38UCSC Ensembl
chr6:138492158..138492557hg19UCSC Ensembl
Innerchr6:138492158..138492557hg19UCSC Ensembl
Outerchr6:138491841..138492817hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12565608, essv12565629, essv12565582, essv12565618, essv12565642, essv12565588, essv12565637, essv12565641, essv12565605, essv12565630, essv12565644, essv12565646, essv12565627, essv12565634, essv12565628, essv12565635, essv12565645, essv12565647, essv12565592, essv12565609, essv12565633, essv12565593, essv12565640, essv12565583, essv12565607, essv12565597, essv12565590, essv12565585, essv12565589, essv12565626, essv12565625, essv12565621, essv12565600, essv12565596, essv12565601, essv12565595, essv12565636, essv12565624, essv12565614, essv12565584, essv12565622, essv12565610, essv12565587, essv12565632, essv12565631, essv12565604, essv12565619, essv12565639, essv12565611, essv12565613, essv12565586, essv12565602, essv12565612, essv12565606, essv12565643, essv12565615, essv12565617, essv12565594, essv12565591, essv12565603, essv12565623, essv12565598, essv12565599, essv12565638, essv12565616, essv12565620
SamplesHG02339, NA20339, NA19397, HG01462, HG03052, NA18508, HG02433, HG02337, HG02323, NA19377, HG03126, NA19374, HG03133, HG03086, NA19201, HG03168, HG03485, HG02620, HG03370, HG02549, HG02854, NA19197, HG01393, NA19041, HG03520, HG02561, HG02252, HG03189, HG02573, NA19137, HG02427, NA19239, HG03267, NA19025, HG02715, HG03270, HG03169, HG02879, HG03120, HG03363, HG01104, NA19152, NA18933, HG02678, NA19654, NA19099, NA19095, HG03109, HG02722, HG03567, HG02255, NA19017, HG00734, HG03458, HG02611, HG03127, HG02941, HG02839, HG02464, NA19248, HG02095, NA21088, NA19713, NA20289, HG02851, HG02284
Known GenesKIAA1244
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610951
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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