A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8380n54



Internal ID22776275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75357994..75523048hg38UCSC Ensembl
chr3:75407145..75572199hg19UCSC Ensembl
chr3:75489835..75654889hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38165055
hg19165055
hg18165055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590659, nsv590664, nsv590645, nsv590649, nsv590648, nsv590658
Samples1780854573_A, 1798860443_A, HGDP01362, NINDS_36, 1798860565_A, 1780854483_A
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8380n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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