A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796568



Internal ID19175838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48098595..48143365hg38UCSC Ensembl
Innerchr1:48564267..48609037hg19UCSC Ensembl
Innerchr1:48336854..48381624hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3844771
hg1944771
hg1844771
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893523
Supporting Variants
Samples
Known GenesSKINTL
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796568
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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