A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10828729



Internal ID6614327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206841568..206843389hg38UCSC Ensembl
Innerchr2:206841568..206843389hg38UCSC Ensembl
Outerchr2:206841340..206843634hg38UCSC Ensembl
chr2:207706292..207708113hg19UCSC Ensembl
Innerchr2:207706292..207708113hg19UCSC Ensembl
Outerchr2:207706064..207708358hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594073
Supporting Variants
SamplesNA20778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10828729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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