A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982381



Internal ID12973636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117507986..117638782hg38UCSC Ensembl
Innerchr2:118265562..118396358hg19UCSC Ensembl
Innerchr2:117982032..118112828hg18UCSC Ensembl
Innerchr2:117981792..118112588hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38130797
hg19130797
hg18130797
hg17130797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751824
Supporting Variants
SamplesBEC_431
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982381
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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