A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696380



Internal ID9761039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3997042..3997463hg38UCSC Ensembl
Outerchr18:3997042..3997463hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716699
Supporting Variants
SamplesSSM037
Known GenesDLGAP1, DLGAP1-AS4
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)essv6696380
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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