A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892344



Internal ID18836478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52487203..52577839hg38UCSC Ensembl
Outerchr13:52454575..52629536hg38UCSC Ensembl
Innerchr13:53061338..53151974hg19UCSC Ensembl
Outerchr13:53028710..53203671hg19UCSC Ensembl
Innerchr13:51959339..52049975hg18UCSC Ensembl
Outerchr13:51926711..52101672hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38174962
hg19174962
hg18174962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780574, essv25797868
Samples
Known GenesCKAP2, HNRNPA1L2, TPTE2P3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892344
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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