A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593287



Internal ID6980611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167483174..167513657hg38UCSC Ensembl
Innerchr2:167483174..167513657hg38UCSC Ensembl
Outerchr2:167482674..167514157hg38UCSC Ensembl
chr2:168339684..168370167hg19UCSC Ensembl
Innerchr2:168339684..168370167hg19UCSC Ensembl
Outerchr2:168339184..168370667hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3830484
hg1930484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10751000
SamplesHG00704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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