A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984723



Internal ID12983407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83837203..83871903hg38UCSC Ensembl
Innerchr14:84303547..84338247hg19UCSC Ensembl
Innerchr14:83373300..83408000hg18UCSC Ensembl
Innerchr14:83373300..83408000hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3834701
hg1934701
hg1834701
hg1734701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751287
Supporting Variants
SamplesSPC_169
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984723
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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