A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751786



Internal ID12638652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42693883..43181778hg38UCSC Ensembl
Innerchr19:43198035..43685930hg19UCSC Ensembl
Innerchr19:47889875..48377770hg18UCSC Ensembl
Innerchr19:47889875..48377770hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38487896
hg19487896
hg18487896
hg17487896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140e55
Supporting Variantsessv6985600, essv6981540, essv6981541
SamplesBEC_298
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG5, PSG6, PSG7, PSG8
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)esv2751786
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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