A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717471



Internal ID9951762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77712489..77713150hg38UCSC Ensembl
Outerchr18:75424445..75425106hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937094, essv6971723, essv6921111, essv6852532
SamplesSSM028, SSM021, SSM017, 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)esv2717471
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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