A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710385



Internal ID9775187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55097441..55097795hg38UCSC Ensembl
Outerchr19:55608809..55609163hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718952, esv2718949, esv2718947
Supporting Variants
SamplesSSM041
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)essv6710385
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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