A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890753



Internal ID18838369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151428994..151572020hg38UCSC Ensembl
Outerchr5:151428994..151572020hg38UCSC Ensembl
Innerchr5:150808555..150951581hg19UCSC Ensembl
Outerchr5:150808555..150951581hg19UCSC Ensembl
Innerchr5:150788748..150931774hg18UCSC Ensembl
Outerchr5:150788748..150931774hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38143027
hg19143027
hg18143027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790151
Samples
Known GenesFAT2, MIR6499, SLC36A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890753
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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