A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717588



Internal ID9951879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78767206..78767808hg38UCSC Ensembl
Outerchr18:76527206..76527808hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880096, essv6873165, essv6824474, essv6729134, essv6945938, essv6812887, essv6905698, essv6925167, essv6772949, essv6941270
SamplesSSM046, SSM011, SSM079, SSM065, SSM013, SSM009, SSM093, SSM023, SSM018, SSM022
Known Genes
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)esv2717588
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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