A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592243



Internal ID6979570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122918620..123008036hg38UCSC Ensembl
Innerchr2:122918626..123008030hg38UCSC Ensembl
Outerchr2:122918614..123008042hg38UCSC Ensembl
chr2:123676196..123765612hg19UCSC Ensembl
Innerchr2:123676202..123765606hg19UCSC Ensembl
Outerchr2:123676190..123765618hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3889417
hg1989417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10652531, essv10652530
SamplesNA19457, HG02561
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592243
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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