A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3070n100



Internal ID22789157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:150721..544472hg38UCSC Ensembl
chr17:514..447712hg19UCSC Ensembl
chr17:514..394462hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38393752
hg19447199
hg18393949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061272, nsv1055810
Samples
Known GenesC17orf97, DOC2B, FAM101B, LOC100506371, LOC100506388, RPH3AL, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3070n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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