A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925434



Internal ID9687281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55093358..55094244hg38UCSC Ensembl
Outerchr19:55604726..55605612hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718946
Supporting Variants
SamplesSSM018
Known GenesPPP1R12C
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6925434
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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