A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990300



Internal ID12979296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150718548..150884690hg38UCSC Ensembl
Innerchr2:151575062..151741204hg19UCSC Ensembl
Innerchr2:151283308..151449450hg18UCSC Ensembl
Innerchr2:151400570..151566712hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38166143
hg19166143
hg18166143
hg17166143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35134
Supporting Variants
SamplesNA12760
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990300
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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