A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988196



Internal ID12980372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:59960029..60009229hg38UCSC Ensembl
Innerchr14:60426747..60475947hg19UCSC Ensembl
Innerchr14:59496500..59545700hg18UCSC Ensembl
Innerchr14:59496500..59545700hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3849201
hg1949201
hg1849201
hg1749201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34890
Supporting Variants
SamplesNA18571
Known GenesLRRC9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988196
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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