A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3089n100



Internal ID22789176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5187013..5327634hg38UCSC Ensembl
chr17:5090308..5230929hg19UCSC Ensembl
chr17:5031032..5171653hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38140622
hg19140622
hg18140622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064138, nsv1058603
Samples
Known GenesLOC100130950, RABEP1, SCIMP, ZNF594
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3089n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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