A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16324331



Internal ID720463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41929965..41933364hg38UCSC Ensembl
Innerchr21:41929968..41933362hg38UCSC Ensembl
Outerchr21:41929963..41933367hg38UCSC Ensembl
chr21:43350074..43353473hg19UCSC Ensembl
Innerchr21:43350077..43353471hg19UCSC Ensembl
Outerchr21:43350072..43353476hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647073
Supporting Variants
SamplesHG00337
Known GenesC2CD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16324331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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