A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792666



Internal ID9850344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11805178..11805335hg38UCSC Ensembl
Outerchr18:11805177..11805334hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716802, esv2716800
Supporting Variants
SamplesSSM070
Known GenesGNAL
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)essv6792666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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