A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11831n54



Internal ID22779726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2052469..2069446hg38UCSC Ensembl
chr8:2000587..2017565hg19UCSC Ensembl
chr8:1987994..2004972hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3816978
hg1916979
hg1816979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv609571, nsv609570
SamplesNINDS_159
Known GenesMYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11831n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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