A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34356



Internal ID12990395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55026094..55139319hg38UCSC Ensembl
Innerchr19:55537462..55650687hg19UCSC Ensembl
Innerchr19:60229274..60342499hg18UCSC Ensembl
Innerchr19:60229274..60342499hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38113226
hg19113226
hg18113226
hg17113226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990402, essv6986929, essv6979734
SamplesNA18620
Known GenesEPS8L1, GP6, PPP1R12C, RDH13, TNNT1
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)esv34356
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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