A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990265



Internal ID12632209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115183569..115558926hg38UCSC Ensembl
Innerchr1:115726190..116101547hg19UCSC Ensembl
Innerchr1:115527713..115903070hg18UCSC Ensembl
Innerchr1:115438232..115813589hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38375358
hg19375358
hg18375358
hg17375358
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)essv6990265
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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