A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988559



Internal ID12628574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18240747..18831848hg38UCSC Ensembl
Innerchr2:18422013..19013114hg19UCSC Ensembl
Innerchr2:18285494..18876595hg18UCSC Ensembl
Innerchr2:18343641..18934742hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38591102
hg19591102
hg18591102
hg17591102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751837
Supporting Variants
SamplesBEC_570
Known GenesNT5C1B, NT5C1B-RDH14, RDH14
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988559
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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