A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868081



Internal ID9918068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3674847..3674940hg38UCSC Ensembl
Outerchr18:3674847..3674940hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716691, esv2716692, esv2716693
Supporting Variants
SamplesSSM089
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)essv6868081
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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