A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592142



Internal ID6979469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117679121..117680589hg38UCSC Ensembl
Innerchr2:117679121..117680589hg38UCSC Ensembl
Outerchr2:117678869..117680825hg38UCSC Ensembl
chr2:118436697..118438165hg19UCSC Ensembl
Innerchr2:118436697..118438165hg19UCSC Ensembl
Outerchr2:118436445..118438401hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381469
hg191469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10637274
SamplesHG04162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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