A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610942



Internal ID6997858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137575949..137643013hg38UCSC Ensembl
chr6:137897086..137964150hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3867065
hg1967065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1222e214
Supporting Variantsessv12565509, essv12565513, essv12565506, essv12565512, essv12565508, essv12565507, essv12565511, essv12565514, essv12565510, essv12565516, essv12565515
SamplesHG00235, HG00351, HG00181, HG00327, HG00266, HG00183, HG00282, HG00344, HG00324, HG00285, HG00366
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610942
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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