A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717167



Internal ID10300803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59430234..59433429hg38UCSC Ensembl
Outerchr18:57097466..57100661hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg383196
hg193196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682353, essv6747404, essv6710164, essv6954123, essv6780283, essv6977772, essv6880070, essv6905669, essv6772900, essv6902049, essv6916900, essv6832090, essv6932756, essv6721489, essv6874270, essv6871321, essv6744610, essv6699290, essv6877285, essv6696439, essv6804089, essv6971690, essv6913608, essv6843308, essv6941233
SamplesSSM065, SSM038, SSM013, SSM073, SSM093, SSM002, SSM041, SSM028, SSM092, SSM084, SSM090, SSM067, SSM044, SSM033, SSM081, SSM020, SSM007, SSM016, SSM037, SSM022, SSM091, SSM055, SSM025, SSM004, SSM012
Known GenesCCBE1
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)esv2717167
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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