A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv290n100



Internal ID20151906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112808307..112863281hg38UCSC Ensembl
chr1:113350929..113405903hg19UCSC Ensembl
chr1:113152452..113207426hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3854975
hg1954975
hg1854975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011519, nsv1000352
Samples
Known GenesLOC100996702
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv290n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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