A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666988



Internal ID9644675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40945136..41013205hg38UCSC Ensembl
Outerchr19:41451041..41519110hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3868070
hg1968070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718571, esv2718572
Supporting Variants
SamplesSSM004
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)essv6666988
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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