A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4007n100



Internal ID20155623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94662150..95248719hg38UCSC Ensembl
chr2:95327875..95914467hg19UCSC Ensembl
chr2:94691602..95278194hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38586570
hg19586593
hg18586593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000661, nsv1005016
Samples
Known GenesANKRD20A8P, FAM95A, LOC442028, MAL, MRPS5, TEKT4, ZNF2, ZNF514
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4007n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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