A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12315481



Internal ID6828564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34998677..35004313hg38UCSC Ensembl
Innerchr6:34998827..35004163hg38UCSC Ensembl
Outerchr6:34998527..35004463hg38UCSC Ensembl
chr6:34966454..34972090hg19UCSC Ensembl
Innerchr6:34966604..34971940hg19UCSC Ensembl
Outerchr6:34966304..34972240hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg385637
hg195637
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608674
Supporting Variants
SamplesNA20902
Known GenesANKS1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12315481
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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