A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3556n100



Internal ID22789643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42751053..43134772hg38UCSC Ensembl
chr19:43255205..43638924hg19UCSC Ensembl
chr19:47947045..48330764hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38383720
hg19383720
hg18383720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066158, nsv1057586, nsv1056360, nsv1064690, nsv1065531, nsv1056760, nsv1066433, nsv1062552, nsv1058160, nsv1056761, nsv1057739, nsv1066290, nsv1064551, nsv1063043, nsv1055494, nsv1055809, nsv1067219, nsv1065141, nsv1062710, nsv1055516, nsv1062323
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3556n100
Frequency
Sample Size11257
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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