A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979553



Internal ID12980369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:59960185..59997427hg38UCSC Ensembl
Innerchr14:60426903..60464145hg19UCSC Ensembl
Innerchr14:59496656..59533898hg18UCSC Ensembl
Innerchr14:59496656..59533898hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3837243
hg1937243
hg1837243
hg1737243
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)essv6979553
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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