A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980300



Internal ID12631472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117643184..118533900hg38UCSC Ensembl
Innerchr4:118564339..119455055hg19UCSC Ensembl
Innerchr4:118783787..119674503hg18UCSC Ensembl
Innerchr4:118921942..119812658hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38890717
hg19890717
hg18890717
hg17890717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34354
Supporting Variants
SamplesNA07022
Known GenesCEP170P1, NDST3, PRSS12, SNHG8, SNORA24
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980300
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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