A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982211



Internal ID12626688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43169038hg38UCSC Ensembl
Innerchr19:43240379..43673190hg19UCSC Ensembl
Innerchr19:47932219..48365030hg18UCSC Ensembl
Innerchr19:47932219..48365030hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38432812
hg19432812
hg18432812
hg17432812
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, PSG5, PSG6, PSG7, PSG8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982211
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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