A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34354



Internal ID12643707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117643184..118666956hg38UCSC Ensembl
Innerchr4:118564339..119588111hg19UCSC Ensembl
Innerchr4:118783787..119807559hg18UCSC Ensembl
Innerchr4:118921942..119945714hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381023773
hg191023773
hg181023773
hg171023773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990466, essv6987046, essv6980301, essv6980302, essv6980300
SamplesNA07022
Known GenesCEP170P1, LOC729218, NDST3, PRSS12, SNHG8, SNORA24
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34354
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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