A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3138n100



Internal ID22789225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30538643..30625268hg38UCSC Ensembl
chr17:28865661..28952286hg19UCSC Ensembl
chr17:25889787..25976412hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3886626
hg1986626
hg1886626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064547, nsv1066030
Samples
Known GenesLRRC37BP1, SH3GL1P2, TBC1D29
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3138n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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