A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12319802



Internal ID5560900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36462854..36467506hg38UCSC Ensembl
Innerchr6:36462879..36467481hg38UCSC Ensembl
Outerchr6:36462829..36467531hg38UCSC Ensembl
chr6:36430631..36435283hg19UCSC Ensembl
Innerchr6:36430656..36435258hg19UCSC Ensembl
Outerchr6:36430606..36435308hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg384653
hg194653
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608704
Supporting Variants
SamplesNA19010
Known GenesKCTD20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12319802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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