A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16163966



Internal ID6165782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24494271..25093181hg38UCSC Ensembl
Innerchr20:24494421..25093031hg38UCSC Ensembl
Outerchr20:24494121..25093331hg38UCSC Ensembl
chr20:24474907..25073817hg19UCSC Ensembl
Innerchr20:24475057..25073667hg19UCSC Ensembl
Outerchr20:24474757..25073967hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38598911
hg19598911
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645552
Supporting Variants
SamplesNA19454
Known GenesACSS1, APMAP, CST7, SYNDIG1, VSX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16163966
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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