A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3421n100



Internal ID19013789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6869658..7138691hg38UCSC Ensembl
chr19:6869669..7138702hg19UCSC Ensembl
chr19:6820669..7089702hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38269034
hg19269034
hg18269034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063937, nsv1064076, nsv1057521, nsv1064640, nsv1058699, nsv1064100, nsv1065302, nsv1062182, nsv1063554, nsv1056168, nsv1061117, nsv1057989, nsv1063107, nsv1057285, nsv1066480, nsv1064060, nsv1059416, nsv1063324, nsv1057270, nsv1065068, nsv1065576
Samples
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3421n100
Frequency
Sample Size29084
Observed Gain50
Observed Loss0
Observed Complex0
Frequencyn/a


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