A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990021



Internal ID12636811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20224101..20500918hg38UCSC Ensembl
Innerchr13:20798240..21075057hg19UCSC Ensembl
Innerchr13:19696240..19973057hg18UCSC Ensembl
Innerchr13:19696240..19973057hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38276818
hg19276818
hg18276818
hg17276818
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990021
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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