A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592790



Internal ID6980117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145588786..145609498hg38UCSC Ensembl
Innerchr2:145588936..145609348hg38UCSC Ensembl
Outerchr2:145588636..145609648hg38UCSC Ensembl
chr2:146346354..146367066hg19UCSC Ensembl
Innerchr2:146346504..146366916hg19UCSC Ensembl
Outerchr2:146346204..146367216hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3820713
hg1920713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10699881
SamplesHG00457
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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