A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717499



Internal ID9951790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78230666..78230790hg38UCSC Ensembl
Outerchr18:75990666..75990790hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852534, essv6796918, essv6703357
SamplesSSM071, SSM039, SSM086
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)esv2717499
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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