A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608765



Internal ID6995689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40098601..40134715hg38UCSC Ensembl
Innerchr6:40098617..40134700hg38UCSC Ensembl
Outerchr6:40098586..40134731hg38UCSC Ensembl
chr6:40066340..40102454hg19UCSC Ensembl
Innerchr6:40066356..40102439hg19UCSC Ensembl
Outerchr6:40066325..40102470hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3836115
hg1936115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12325642, essv12325636, essv12325637, essv12325641, essv12325638, essv12325630, essv12325631, essv12325632, essv12325640, essv12325633, essv12325634, essv12325639, essv12325635
SamplesHG04212, NA20877, HG03960, NA21137, HG03705, NA21130, HG04206, NA20910, HG03595, HG04225, HG02494, HG02685, HG03019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608765
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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