A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986672



Internal ID12632231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115191337..115560337hg38UCSC Ensembl
Innerchr1:115733958..116102958hg19UCSC Ensembl
Innerchr1:115535481..115904481hg18UCSC Ensembl
Innerchr1:115446000..115815000hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38369001
hg19369001
hg18369001
hg17369001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34370
Supporting Variants
SamplesNA12057
Known GenesNGF
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986672
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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