A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3120n100



Internal ID22789207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20215186..20260247hg38UCSC Ensembl
chr17:20118499..20163560hg19UCSC Ensembl
chr17:20059091..20104152hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3845062
hg1945062
hg1845062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065363, nsv1059774
Samples
Known GenesSPECC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3120n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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