A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645693



Internal ID6685755
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16175897, essv16175894, essv16175896, essv16175895
SamplesHG03578, HG03073, HG02667, HG03470
Known GenesEIF2S2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645693
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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