A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984777



Internal ID12636817
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 StatusS
Merged Variantsesv2751132
Supporting Variants
SamplesSPC_179
Known GenesCRYL1, GJB6, MIR4499
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984777
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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