A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988546



Internal ID12627195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66898030..67295129hg38UCSC Ensembl
Innerchr14:67364747..67761846hg19UCSC Ensembl
Innerchr14:66434500..66831599hg18UCSC Ensembl
Innerchr14:66434500..66831599hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38397100
hg19397100
hg18397100
hg17397100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751285
Supporting Variants
SamplesBEC_462
Known GenesFAM71D, GPHN, MPP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988546
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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