A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10729n54



Internal ID22778624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65599795..65630539hg38UCSC Ensembl
chr6:66309688..66340432hg19UCSC Ensembl
chr6:66366409..66397153hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3830745
hg1930745
hg1830745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv603446, nsv603445
SamplesNINDS_46, NINDS_17
Known GenesEYS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10729n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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