A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12240071



Internal ID2037240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29322852..29393426hg38UCSC Ensembl
Innerchr6:29322891..29393388hg38UCSC Ensembl
Outerchr6:29322814..29393465hg38UCSC Ensembl
chr6:29290629..29361203hg19UCSC Ensembl
Innerchr6:29290668..29361165hg19UCSC Ensembl
Outerchr6:29290591..29361242hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3870575
hg1970575
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608477
Supporting Variants
SamplesHG01867
Known GenesOR12D3, OR5V1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12240071
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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