A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12653372



Internal ID511091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170255438..170258870hg38UCSC Ensembl
Innerchr6:170255438..170258870hg38UCSC Ensembl
Outerchr6:170255223..170259101hg38UCSC Ensembl
chr6:170564526..170567958hg19UCSC Ensembl
Innerchr6:170564526..170567958hg19UCSC Ensembl
Outerchr6:170564311..170568189hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383433
hg193433
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611732
Supporting Variants
SamplesHG00182
Known GenesLOC154449
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12653372
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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