A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751257



Internal ID12984809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19964901hg38UCSC Ensembl
Innerchr14:20203125..20433060hg19UCSC Ensembl
Innerchr14:19272965..19502900hg18UCSC Ensembl
Innerchr14:19272965..19502900hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229936
hg19229936
hg18229936
hg17229936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6984434, essv6984435, essv6984436, essv6988803
SamplesBEC_706
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)esv2751257
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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