A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10791836



Internal ID6504270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188081513..188119965hg38UCSC Ensembl
Innerchr2:188081513..188119965hg38UCSC Ensembl
Outerchr2:188081013..188120465hg38UCSC Ensembl
chr2:188946240..188984692hg19UCSC Ensembl
Innerchr2:188946240..188984692hg19UCSC Ensembl
Outerchr2:188945740..188985192hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3838453
hg1938453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593705
Supporting Variants
SamplesNA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10791836
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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