A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34849



Internal ID12990885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42783085..43034789hg38UCSC Ensembl
Innerchr19:43287237..43538941hg19UCSC Ensembl
Innerchr19:47979077..48230781hg18UCSC Ensembl
Innerchr19:47979077..48230781hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38251705
hg19251705
hg18251705
hg17251705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv142e55
Supporting Variantsessv6980212, essv6980213
SamplesNA18969
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34849
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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