A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632724



Internal ID7019535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74426086..74432370hg38UCSC Ensembl
Innerchr13:74426088..74432369hg38UCSC Ensembl
Outerchr13:74426085..74432372hg38UCSC Ensembl
chr13:75000223..75006507hg19UCSC Ensembl
Innerchr13:75000225..75006506hg19UCSC Ensembl
Outerchr13:75000222..75006509hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg386285
hg196285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14796504, essv14796478, essv14796483, essv14796519, essv14796471, essv14796527, essv14796472, essv14796482, essv14796480, essv14796493, essv14796520, essv14796499, essv14796479, essv14796522, essv14796510, essv14796485, essv14796530, essv14796531, essv14796509, essv14796529, essv14796487, essv14796524, essv14796528, essv14796500, essv14796486, essv14796498, essv14796507, essv14796495, essv14796490, essv14796514, essv14796475, essv14796489, essv14796503, essv14796494, essv14796506, essv14796512, essv14796492, essv14796517, essv14796521, essv14796501, essv14796476, essv14796515, essv14796505, essv14796481, essv14796518, essv14796513, essv14796484, essv14796523, essv14796525, essv14796470, essv14796497, essv14796526, essv14796516, essv14796511, essv14796473, essv14796502, essv14796532, essv14796491, essv14796508, essv14796488, essv14796477, essv14796496, essv14796474
SamplesNA20339, NA19700, HG02419, HG03521, HG02476, HG03515, NA20346, HG02888, NA18519, HG02811, HG02810, HG03499, NA18923, NA20317, HG02756, HG03105, NA19137, HG02885, HG01284, HG03114, HG02715, HG03270, HG02977, NA19984, HG03636, HG03081, HG02014, HG02817, HG03202, NA18856, NA18912, HG03446, HG02884, HG02309, HG02283, HG02666, NA19160, HG01896, NA19035, HG02772, NA19308, NA19440, HG02807, HG02837, HG03259, HG02941, HG03304, NA19467, HG02814, HG02694, HG02938, HG03063, HG03258, HG02768, NA18873, HG02679, HG03538, HG02947, HG02763, HG02861, NA18522, HG02343, HG03166
Known GenesLINC00381
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632724
Frequency
Sample Size2504
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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