A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34543



Internal ID12990580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36267143..36303358hg38UCSC Ensembl
Innerchr14:36736349..36772564hg19UCSC Ensembl
Innerchr14:35806100..35842315hg18UCSC Ensembl
Innerchr14:35806100..35842315hg17UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3836216
hg1936216
hg1836216
hg1736216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv83e55
Supporting Variantsessv6987067, essv6980386
SamplesNA10830
Known GenesMBIP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34543
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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