A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980301



Internal ID12978157
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 StatusS
Merged Variantsesv34354
Supporting Variants
SamplesNA07022
Known GenesCEP170P1, LOC729218, NDST3, PRSS12, SNHG8, SNORA24
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980301
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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