A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988697



Internal ID12629984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82328321..82825356hg38UCSC Ensembl
Innerchr7:81957637..82454672hg19UCSC Ensembl
Innerchr7:81795573..82292608hg18UCSC Ensembl
Innerchr7:81602288..82099323hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38497036
hg19497036
hg18497036
hg17497036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752186
Supporting Variants
SamplesBEC_678
Known GenesCACNA2D1, PCLO
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988697
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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