A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978955



Internal ID12632706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105150602..105471602hg38UCSC Ensembl
Innerchr7:104791049..105112049hg19UCSC Ensembl
Innerchr7:104578285..104899285hg18UCSC Ensembl
Innerchr7:104385000..104706000hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38321001
hg19321001
hg18321001
hg17321001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34580
Supporting Variants
SamplesNA12802
Known GenesPUS7, SRPK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978955
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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