A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750795



Internal ID12984347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102190128..102384232hg38UCSC Ensembl
Innerchr1:102655684..102849788hg19UCSC Ensembl
Innerchr1:102428272..102622376hg18UCSC Ensembl
Innerchr1:102367705..102561809hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38194105
hg19194105
hg18194105
hg17194105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e55
Supporting Variantsessv6984416, essv6984417, essv6989958
SamplesBEC_705
Known GenesMIR548AI
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)esv2750795
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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