A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv80n54



Internal ID20133504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6396412..6512115hg38UCSC Ensembl
chr1:6456472..6572175hg19UCSC Ensembl
chr1:6379059..6494762hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38115704
hg19115704
hg18115704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545259, nsv545258, nsv545260, nsv545262, nsv545261, nsv545263
SamplesHGDP00814, NINDS_98, 1780862021_A, NINDS_66
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv80n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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