A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10779438



Internal ID1818914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179087148..179100413hg38UCSC Ensembl
Innerchr2:179087148..179100413hg38UCSC Ensembl
Outerchr2:179086648..179100913hg38UCSC Ensembl
chr2:179951875..179965140hg19UCSC Ensembl
Innerchr2:179951875..179965140hg19UCSC Ensembl
Outerchr2:179951375..179965640hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3813266
hg1913266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593501
Supporting Variants
SamplesHG01694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10779438
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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