A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592767



Internal ID6633050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144363530..144368677hg38UCSC Ensembl
Innerchr2:144363530..144368677hg38UCSC Ensembl
Outerchr2:144363030..144369177hg38UCSC Ensembl
chr2:145121097..145126244hg19UCSC Ensembl
Innerchr2:145121097..145126244hg19UCSC Ensembl
Outerchr2:145120597..145126744hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10695745, essv10695744, essv10695743
SamplesNA19317, NA19026, NA19376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592767
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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