A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891733



Internal ID19186129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137984918..138019381hg38UCSC Ensembl
Outerchr9:137984918..138019381hg38UCSC Ensembl
Innerchr9:140879370..140913833hg19UCSC Ensembl
Outerchr9:140879370..140913833hg19UCSC Ensembl
Innerchr9:139999191..140033654hg18UCSC Ensembl
Outerchr9:139999191..140033654hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3834464
hg1934464
hg1834464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780884, essv25781726, essv25780767, essv25780600
Samples
Known GenesCACNA1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891733
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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