A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986214



Internal ID12628567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18289493..18828510hg38UCSC Ensembl
Innerchr2:18470759..19009776hg19UCSC Ensembl
Innerchr2:18334240..18873257hg18UCSC Ensembl
Innerchr2:18392387..18931404hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38539018
hg19539018
hg18539018
hg17539018
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986214
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer