A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797868



Internal ID19174979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52454575..52629536hg38UCSC Ensembl
Innerchr13:53028710..53203671hg19UCSC Ensembl
Innerchr13:51926711..52101672hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38174962
hg19174962
hg18174962
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892344
Supporting Variants
Samples
Known GenesCKAP2, HNRNPA1L2, TPTE2P3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797868
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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