A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751787



Internal ID12638653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42736227..43181778hg38UCSC Ensembl
Innerchr19:43240379..43685930hg19UCSC Ensembl
Innerchr19:47932219..48377770hg18UCSC Ensembl
Innerchr19:47932219..48377770hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38445552
hg19445552
hg18445552
hg17445552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141e55
Supporting Variantsessv6989888, essv6983974, essv6983973
SamplesBEC_739
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)esv2751787
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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