A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792612



Internal ID19180462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52564080..52625702hg38UCSC Ensembl
Innerchr13:53138215..53199837hg19UCSC Ensembl
Innerchr13:52036216..52097838hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3861623
hg1961623
hg1861623
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892345
Supporting Variants
Samples
Known GenesHNRNPA1L2, TPTE2P3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792612
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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