A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989958



Internal ID12976986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102221423..102372423hg38UCSC Ensembl
Innerchr1:102686979..102837979hg19UCSC Ensembl
Innerchr1:102459567..102610567hg18UCSC Ensembl
Innerchr1:102399000..102550000hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38151001
hg19151001
hg18151001
hg17151001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750795
Supporting Variants
SamplesBEC_705
Known GenesMIR548AI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989958
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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