A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979327



Internal ID12633322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20400761..20522561hg38UCSC Ensembl
Innerchr13:20974900..21096700hg19UCSC Ensembl
Innerchr13:19872900..19994700hg18UCSC Ensembl
Innerchr13:19872900..19994700hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38121801
hg19121801
hg18121801
hg17121801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34984
Supporting Variants
SamplesNA18529
Known GenesCRYL1, MIR4499
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979327
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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