A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4912n100



Internal ID20156528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142100008..142372619hg38UCSC Ensembl
chr3:141818850..142091461hg19UCSC Ensembl
chr3:143301540..143574151hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38272612
hg19272612
hg18272612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009715, nsv1007508, nsv999250, nsv1008405, nsv1003615, nsv1001553, nsv1000865, nsv1000703, nsv1008179, nsv1005216, nsv998076, nsv999975
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4912n100
Frequency
Sample Size29084
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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