A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788296



Internal ID18827479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:23843968..23913320hg38UCSC Ensembl
Innerchr1:24170458..24239810hg19UCSC Ensembl
Innerchr1:24043045..24112397hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3869353
hg1969353
hg1869353
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893081
Supporting Variants
Samples
Known GenesCNR2, FUCA1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788296
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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