A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010444



Internal ID6722533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82326381..82326850hg38UCSC Ensembl
Innerchr7:81955697..81956166hg19UCSC Ensembl
Innerchr7:81793633..81794102hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38470
hg19470
hg18470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586942
SamplesHuRef
Known GenesCACNA2D1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010444
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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