A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592204



Internal ID6979531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121332543..121337606hg38UCSC Ensembl
Innerchr2:121332580..121337570hg38UCSC Ensembl
Outerchr2:121332507..121337643hg38UCSC Ensembl
chr2:122090119..122095182hg19UCSC Ensembl
Innerchr2:122090156..122095146hg19UCSC Ensembl
Outerchr2:122090083..122095219hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg385064
hg195064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10644313
SamplesHG03832
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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