A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12279704



Internal ID5022008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32548410..32553495hg38UCSC Ensembl
Innerchr6:32548410..32553495hg38UCSC Ensembl
Outerchr6:32547910..32553995hg38UCSC Ensembl
chr6:32516187..32521272hg19UCSC Ensembl
Innerchr6:32516187..32521272hg19UCSC Ensembl
Outerchr6:32515687..32521772hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385086
hg195086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608596
Supporting Variants
SamplesNA18516
Known GenesHLA-DRB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12279704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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