A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9884056



Internal ID6509349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21237786..21238153hg38UCSC Ensembl
Innerchr1:21237805..21238135hg38UCSC Ensembl
Outerchr1:21237768..21238172hg38UCSC Ensembl
chr1:21564279..21564646hg19UCSC Ensembl
Innerchr1:21564298..21564628hg19UCSC Ensembl
Outerchr1:21564261..21564665hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585442
Supporting Variants
SamplesNA20340
Known GenesECE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9884056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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