A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751793



Internal ID12638659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42801292..43227007hg38UCSC Ensembl
Innerchr19:43305444..43731159hg19UCSC Ensembl
Innerchr19:47997284..48422999hg18UCSC Ensembl
Innerchr19:47997284..48422999hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38425716
hg19425716
hg18425716
hg17425716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141e55
Supporting Variantsessv6990078, essv6989475, essv6985096, essv6985097
SamplesBEC_98
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
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)esv2751793
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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