A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780600



Internal ID19173623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137984918..138019381hg38UCSC Ensembl
Innerchr9:140879370..140913833hg19UCSC Ensembl
Innerchr9:139999191..140033654hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3834464
hg1934464
hg1834464
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891733
Supporting Variants
Samples
Known GenesCACNA1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780600
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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