A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751265



Internal ID12638131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20095701hg38UCSC Ensembl
Innerchr14:20203125..20563860hg19UCSC Ensembl
Innerchr14:19272965..19633700hg18UCSC Ensembl
Innerchr14:19272965..19633700hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38360736
hg19360736
hg18360736
hg17360736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81e55
Supporting Variantsessv6983283, essv6986394, essv6988648, essv6986395, essv6983282
SamplesBEC_563
Known GenesOR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4K5, OR4L1, 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)esv2751265
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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