A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785970



Internal ID19171472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191164659..191181929hg38UCSC Ensembl
Innerchr1:191133789..191151059hg19UCSC Ensembl
Innerchr1:189400412..189417682hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3817271
hg1917271
hg1817271
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890926
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785970
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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