A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990019



Internal ID12983477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102221423..102351423hg38UCSC Ensembl
Innerchr1:102686979..102816979hg19UCSC Ensembl
Innerchr1:102459567..102589567hg18UCSC Ensembl
Innerchr1:102399000..102529000hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38130001
hg19130001
hg18130001
hg17130001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750796
Supporting Variants
SamplesSPC_178
Known GenesMIR548AI
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990019
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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