A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320715



Internal ID6322531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38653265..38654902hg38UCSC Ensembl
Innerchr21:38653268..38654899hg38UCSC Ensembl
Outerchr21:38653262..38654905hg38UCSC Ensembl
chr21:40025189..40026826hg19UCSC Ensembl
Innerchr21:40025192..40026823hg19UCSC Ensembl
Outerchr21:40025186..40026829hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647005
Supporting Variants
SamplesHG02810
Known GenesERG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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