A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv385n54



Internal ID22768280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102711036..102802203hg38UCSC Ensembl
chr1:103176592..103267759hg19UCSC Ensembl
chr1:102949180..103040347hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3891168
hg1991168
hg1891168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546926, nsv546924, nsv546925, nsv546927
SamplesHGDP01347
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv385n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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