A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990402



Internal ID12633968
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 StatusS
Merged Variantsesv34356
Supporting Variants
SamplesNA18620
Known GenesEPS8L1, GP6, PPP1R12C, RDH13, TNNT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990402
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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