A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4854n100



Internal ID22790941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127923850..127965502hg38UCSC Ensembl
chr3:127642693..127684345hg19UCSC Ensembl
chr3:129125383..129167035hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3841653
hg1941653
hg1841653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998225, nsv1005402
Samples
Known GenesKBTBD12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4854n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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