A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780574



Internal ID18828902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52487203..52577839hg38UCSC Ensembl
Innerchr13:53061338..53151974hg19UCSC Ensembl
Innerchr13:51959339..52049975hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3890637
hg1990637
hg1890637
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892344
Supporting Variants
Samples
Known GenesTPTE2P3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780574
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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