A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12496946



Internal ID6722192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105732428..105739290hg38UCSC Ensembl
Innerchr6:105732428..105739290hg38UCSC Ensembl
Outerchr6:105732237..105739392hg38UCSC Ensembl
chr6:106180303..106187165hg19UCSC Ensembl
Innerchr6:106180303..106187165hg19UCSC Ensembl
Outerchr6:106180112..106187267hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386863
hg196863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610257
Supporting Variants
SamplesNA20851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12496946
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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