A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16175897



Internal ID6177713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34100640..34101140hg38UCSC Ensembl
Innerchr20:34100690..34101090hg38UCSC Ensembl
Outerchr20:34100534..34101246hg38UCSC Ensembl
chr20:32688446..32688946hg19UCSC Ensembl
Innerchr20:32688496..32688896hg19UCSC Ensembl
Outerchr20:32688340..32689052hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645693
Supporting Variants
SamplesHG03578
Known GenesEIF2S2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16175897
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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