A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978648



Internal ID12632233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115190873..115566237hg38UCSC Ensembl
Innerchr1:115733494..116108858hg19UCSC Ensembl
Innerchr1:115535017..115910381hg18UCSC Ensembl
Innerchr1:115445536..115820900hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38375365
hg19375365
hg18375365
hg17375365
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)essv6978648
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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