A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781248



Internal ID19178169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44841057..44855298hg38UCSC Ensembl
Innerchr13:45415193..45429434hg19UCSC Ensembl
Innerchr13:44313193..44327434hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3814242
hg1914242
hg1814242
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892339
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781248
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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