A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990013



Internal ID12983429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117491353..117641566hg38UCSC Ensembl
Innerchr2:118248929..118399142hg19UCSC Ensembl
Innerchr2:117965399..118115612hg18UCSC Ensembl
Innerchr2:117965159..118115372hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38150214
hg19150214
hg18150214
hg17150214
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990013
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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