A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751790



Internal ID12638656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43301176hg38UCSC Ensembl
Innerchr19:43240379..43805328hg19UCSC Ensembl
Innerchr19:47932219..48497168hg18UCSC Ensembl
Innerchr19:47932219..48497168hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38564950
hg19564950
hg18564950
hg17564950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e55
Supporting Variantsessv6982212, essv6986105, essv6982213, essv6982211
SamplesBEC_402
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751790
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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