A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987046



Internal ID12631462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117646242..118417242hg38UCSC Ensembl
Innerchr4:118567397..119338397hg19UCSC Ensembl
Innerchr4:118786845..119557845hg18UCSC Ensembl
Innerchr4:118925000..119696000hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38771001
hg19771001
hg18771001
hg17771001
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)essv6987046
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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