A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12220250



Internal ID2222066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21822605..21828571hg38UCSC Ensembl
Innerchr6:21823105..21828071hg38UCSC Ensembl
Outerchr6:21821605..21829571hg38UCSC Ensembl
chr6:21822836..21828802hg19UCSC Ensembl
Innerchr6:21823336..21828302hg19UCSC Ensembl
Outerchr6:21821836..21829802hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385967
hg195967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608314
Supporting Variants
SamplesNA18941
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12220250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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