A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319820



Internal ID5975196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36915550..36930110hg38UCSC Ensembl
Innerchr21:36916050..36929610hg38UCSC Ensembl
Outerchr21:36914550..36931110hg38UCSC Ensembl
chr21:38287850..38302410hg19UCSC Ensembl
Innerchr21:38288350..38301910hg19UCSC Ensembl
Outerchr21:38286850..38303410hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3814561
hg1914561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646979
Supporting Variants
SamplesNA19383
Known GenesHLCS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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