A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986105



Internal ID12626668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43120181hg38UCSC Ensembl
Innerchr19:43240379..43624333hg19UCSC Ensembl
Innerchr19:47932219..48316173hg18UCSC Ensembl
Innerchr19:47932219..48316173hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38383955
hg19383955
hg18383955
hg17383955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751790
Supporting Variants
SamplesBEC_402
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986105
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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