A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179507



Internal ID2435725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4656834..4662173hg38UCSC Ensembl
Innerchr6:4656864..4662144hg38UCSC Ensembl
Outerchr6:4656805..4662203hg38UCSC Ensembl
chr6:4657068..4662407hg19UCSC Ensembl
Innerchr6:4657098..4662378hg19UCSC Ensembl
Outerchr6:4657039..4662437hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg385340
hg195340
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607950
Supporting Variants
SamplesHG02147
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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