A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984738



Internal ID12983425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117221618..117363294hg38UCSC Ensembl
Innerchr2:117979194..118120870hg19UCSC Ensembl
Innerchr2:117695664..117837340hg18UCSC Ensembl
Innerchr2:117695424..117837100hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38141677
hg19141677
hg18141677
hg17141677
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)essv6984738
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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