A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674378



Internal ID9742535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3833021..3833246hg38UCSC Ensembl
Outerchr18:3833021..3833246hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716698, esv2716697
Supporting Variants
SamplesSSM031
Known GenesDLGAP1
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)essv6674378
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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