A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890703



Internal ID19185005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106727587..106963579hg38UCSC Ensembl
Outerchr5:106727587..106992625hg38UCSC Ensembl
Innerchr5:106063288..106299280hg19UCSC Ensembl
Outerchr5:106063288..106328326hg19UCSC Ensembl
Innerchr5:106091187..106327179hg18UCSC Ensembl
Outerchr5:106091187..106356225hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38265039
hg19265039
hg18265039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791718, essv25787991
Samples
Known GenesLOC102467213
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890703
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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