A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978953



Internal ID12632704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105123133..105512795hg38UCSC Ensembl
Innerchr7:104763580..105153242hg19UCSC Ensembl
Innerchr7:104550816..104940478hg18UCSC Ensembl
Innerchr7:104357531..104747193hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38389663
hg19389663
hg18389663
hg17389663
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978953
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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