A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982321



Internal ID12626872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75570063..75712663hg38UCSC Ensembl
Innerchr13:76144199..76286799hg19UCSC Ensembl
Innerchr13:75042200..75184800hg18UCSC Ensembl
Innerchr13:75042200..75184800hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38142601
hg19142601
hg18142601
hg17142601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751152
Supporting Variants
SamplesBEC_416
Known GenesLMO7, UCHL3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982321
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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