A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988767



Internal ID12977845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19735001..19954401hg38UCSC Ensembl
Innerchr14:20203160..20422560hg19UCSC Ensembl
Innerchr14:19273000..19492400hg18UCSC Ensembl
Innerchr14:19273000..19492400hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38219401
hg19219401
hg18219401
hg17219401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751259
Supporting Variants
SamplesBEC_8
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988767
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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