A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892345



Internal ID19183165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52564080..52625702hg38UCSC Ensembl
Outerchr13:52564080..52625702hg38UCSC Ensembl
Innerchr13:53138215..53199837hg19UCSC Ensembl
Outerchr13:53138215..53199837hg19UCSC Ensembl
Innerchr13:52036216..52097838hg18UCSC Ensembl
Outerchr13:52036216..52097838hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3861623
hg1961623
hg1861623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792612
Samples
Known GenesHNRNPA1L2, TPTE2P3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892345
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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