A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9883252



Internal ID6508545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20970061..20971738hg38UCSC Ensembl
Innerchr1:20970065..20971735hg38UCSC Ensembl
Outerchr1:20970058..20971742hg38UCSC Ensembl
chr1:21296554..21298231hg19UCSC Ensembl
Innerchr1:21296558..21298228hg19UCSC Ensembl
Outerchr1:21296551..21298235hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585432
Supporting Variants
SamplesNA20896
Known GenesEIF4G3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9883252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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