A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979004



Internal ID12632783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105150602..105503602hg38UCSC Ensembl
Innerchr7:104791049..105144049hg19UCSC Ensembl
Innerchr7:104578285..104931285hg18UCSC Ensembl
Innerchr7:104385000..104738000hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38353001
hg19353001
hg18353001
hg17353001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34588
Supporting Variants
SamplesNA12814
Known GenesPUS7, SRPK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979004
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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