A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980386



Internal ID12978311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36276463..36303358hg38UCSC Ensembl
Innerchr14:36745669..36772564hg19UCSC Ensembl
Innerchr14:35815420..35842315hg18UCSC Ensembl
Innerchr14:35815420..35842315hg17UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3826896
hg1926896
hg1826896
hg1726896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34543
Supporting Variants
SamplesNA10830
Known GenesMBIP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980386
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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