A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34984



Internal ID12991020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20398561..20542402hg38UCSC Ensembl
Innerchr13:20972700..21116541hg19UCSC Ensembl
Innerchr13:19870700..20014541hg18UCSC Ensembl
Innerchr13:19870700..20014541hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38143842
hg19143842
hg18143842
hg17143842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979325, essv6979327, essv6979326, essv6988154, essv6989085
SamplesNA18529
Known GenesCRYL1, MIR4499
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)esv34984
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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