A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716732



Internal ID9951020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:6315521..6316542hg38UCSC Ensembl
Outerchr18:6315520..6316541hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761495, essv6846520, essv6729064, essv6945828, essv6812155, essv6839976, essv6913263, essv6804044, essv6888604, essv6806940, essv6696385, essv6792652, essv6772854, essv6750197, essv6703256, essv6874230, essv6710129
SamplesSSM010, SSM065, SSM091, SSM061, SSM039, SSM041, SSM056, SSM085, SSM009, SSM073, SSM002, SSM037, SSM046, SSM096, SSM023, SSM074, SSM070
Known GenesL3MBTL4
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)esv2716732
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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