A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783482



Internal ID18814969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31387447..31429446hg38UCSC Ensembl
Innerchr18:28967410..29009409hg19UCSC Ensembl
Innerchr18:27221408..27263407hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3842000
hg1942000
hg1842000
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893085
Supporting Variants
Samples
Known GenesDSG4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783482
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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