A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779409



Internal ID18814318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:93792469..94164796hg38UCSC Ensembl
Innerchr3:93511313..93883640hg19UCSC Ensembl
Innerchr3:94994003..95366330hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38372328
hg19372328
hg18372328
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893746
Supporting Variants
Samples
Known GenesARL13B, DHFRL1, NSUN3, PROS1, STX19
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=52
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779409
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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