A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751837



Internal ID12638703
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 StatusM
Merged Variants
Supporting Variantsessv6982612, essv6988559, essv6986214, essv6982613
SamplesBEC_570
Known GenesNT5C1B, NT5C1B-RDH14, RDH14
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)esv2751837
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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