A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893536



Internal ID19184356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205059554..205173477hg38UCSC Ensembl
Outerchr2:205059554..205173477hg38UCSC Ensembl
Innerchr2:205924277..206038201hg19UCSC Ensembl
Outerchr2:205924277..206038201hg19UCSC Ensembl
Innerchr2:205632522..205746446hg18UCSC Ensembl
Outerchr2:205632522..205746446hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38113924
hg19113925
hg18113925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25800377
Samples
Known GenesPARD3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893536
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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