A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978649



Internal ID12632232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115194337..115625337hg38UCSC Ensembl
Innerchr1:115736958..116167958hg19UCSC Ensembl
Innerchr1:115538481..115969481hg18UCSC Ensembl
Innerchr1:115449000..115880000hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38431001
hg19431001
hg18431001
hg17431001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978649
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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