A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781005



Internal ID19178583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100563147..100712573hg38UCSC Ensembl
Innerchr5:99898851..100048277hg19UCSC Ensembl
Innerchr5:99926750..100076176hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38149427
hg19149427
hg18149427
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890679
Supporting Variants
Samples
Known GenesFAM174A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781005
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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