A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989255



Internal ID12972514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117490138..117647234hg38UCSC Ensembl
Innerchr2:118247714..118404810hg19UCSC Ensembl
Innerchr2:117964184..118121280hg18UCSC Ensembl
Innerchr2:117963944..118121040hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38157097
hg19157097
hg18157097
hg17157097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751819
Supporting Variants
SamplesBEC_319
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989255
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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