A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980302



Internal ID12631470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117646686..118495284hg38UCSC Ensembl
Innerchr4:118567841..119416439hg19UCSC Ensembl
Innerchr4:118787289..119635887hg18UCSC Ensembl
Innerchr4:118925444..119774042hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38848599
hg19848599
hg18848599
hg17848599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34354
Supporting Variants
SamplesNA07022
Known GenesNDST3, PRSS12, SNHG8, SNORA24
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980302
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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