A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16141779



Internal ID1442820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9746496..9762668hg38UCSC Ensembl
Innerchr20:9746496..9762668hg38UCSC Ensembl
Outerchr20:9745996..9763168hg38UCSC Ensembl
chr20:9727144..9743316hg19UCSC Ensembl
Innerchr20:9727144..9743316hg19UCSC Ensembl
Outerchr20:9726644..9743816hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3816173
hg1916173
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645196
Supporting Variants
SamplesHG01334
Known GenesPAK7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16141779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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