A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990012



Internal ID12983430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117215578..117640926hg38UCSC Ensembl
Innerchr2:117973154..118398502hg19UCSC Ensembl
Innerchr2:117689624..118114972hg18UCSC Ensembl
Innerchr2:117689384..118114732hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38425349
hg19425349
hg18425349
hg17425349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751821
Supporting Variants
SamplesSPC_171
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990012
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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