A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750403



Internal ID9811270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40948275..41015969hg38UCSC Ensembl
Outerchr19:41454180..41521874hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3867695
hg1967695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718571, esv2718572
Supporting Variants
SamplesSSM056
Known GenesCYP2B6, CYP2B7P
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)essv6750403
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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