A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751132



Internal ID12637998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20217943..20546665hg38UCSC Ensembl
Innerchr13:20792082..21120804hg19UCSC Ensembl
Innerchr13:19690082..20018804hg18UCSC Ensembl
Innerchr13:19690082..20018804hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38328723
hg19328723
hg18328723
hg17328723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984778, essv6990021, essv6984779, essv6984777, essv6989454, essv6990022
SamplesSPC_179
Known GenesCRYL1, GJB6, 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)esv2751132
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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