A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892348



Internal ID19183168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52895511..52985665hg38UCSC Ensembl
Outerchr2:52895511..52989779hg38UCSC Ensembl
Innerchr2:53122649..53212803hg19UCSC Ensembl
Outerchr2:53122649..53216917hg19UCSC Ensembl
Innerchr2:52976153..53066307hg18UCSC Ensembl
Outerchr2:52976153..53070421hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3894269
hg1994269
hg1894269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799780, essv25783197
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892348
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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