A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009997



Internal ID6722087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82099418..82099754hg38UCSC Ensembl
chr7:81728734..81729070hg19UCSC Ensembl
chr7:81566670..81567006hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38337
hg19337
hg18337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579779
SamplesHuRef
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009997
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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