A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987781



Internal ID12978316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78593004..78643304hg38UCSC Ensembl
Innerchr14:79059347..79109647hg19UCSC Ensembl
Innerchr14:78129100..78179400hg18UCSC Ensembl
Innerchr14:78129100..78179400hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3850301
hg1950301
hg1850301
hg1750301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34435
Supporting Variants
SamplesNA10831
Known GenesNRXN3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987781
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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