A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717373



Internal ID10301009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75165743..75166090hg38UCSC Ensembl
Outerchr18:72877698..72878045hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv465e201
Supporting Variantsessv6885627, essv6941251, essv6891951, essv6913719, essv6741758, essv6840453, essv6858478, essv6804102, essv6880084, essv6977916, essv6868158, essv6715954, essv6772921, essv6877299, essv6882917, essv6753159
SamplesSSM065, SSM087, SSM097, SSM073, SSM093, SSM002, SSM057, SSM092, SSM089, SSM094, SSM006, SSM022, SSM010, SSM095, SSM004, SSM052
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)esv2717373
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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