A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319812



Internal ID2930733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36778899..36785490hg38UCSC Ensembl
Innerchr21:36778899..36785490hg38UCSC Ensembl
Outerchr21:36778794..36785738hg38UCSC Ensembl
chr21:38151200..38157791hg19UCSC Ensembl
Innerchr21:38151200..38157791hg19UCSC Ensembl
Outerchr21:38151095..38158039hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg386592
hg196592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646977
Supporting Variants
SamplesHG02589
Known GenesHLCS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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