A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717548



Internal ID9951839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78508386..78508608hg38UCSC Ensembl
Outerchr18:76268386..76268608hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475e201
Supporting Variantsessv6828548, essv6784462, essv6901249, essv6891962, essv6882927, essv6729129
SamplesSSM100, SSM046, SSM097, SSM094, SSM068, SSM080
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)esv2717548
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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