A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv219n54



Internal ID20133643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27459823..27618848hg38UCSC Ensembl
chr1:27786334..27945359hg19UCSC Ensembl
chr1:27658921..27817946hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38159026
hg19159026
hg18159026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545912, nsv545910, nsv545911
SamplesHGDP00850, HGDP00861
Known GenesAHDC1, FGR, WASF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv219n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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