A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751823



Internal ID12985375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117466188..117677028hg38UCSC Ensembl
Innerchr2:118223764..118434604hg19UCSC Ensembl
Innerchr2:117940234..118151074hg18UCSC Ensembl
Innerchr2:117939994..118150834hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38210841
hg19210841
hg18210841
hg17210841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv160e55
Supporting Variantsessv6982044, essv6989557, essv6982043, essv6982045
SamplesBEC_515
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751823
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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