A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984417



Internal ID12976964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102192618..102384232hg38UCSC Ensembl
Innerchr1:102658174..102849788hg19UCSC Ensembl
Innerchr1:102430762..102622376hg18UCSC Ensembl
Innerchr1:102370195..102561809hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38191615
hg19191615
hg18191615
hg17191615
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984417
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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