A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716727



Internal ID10300363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:6002532..6003418hg38UCSC Ensembl
Outerchr18:6002531..6003417hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863272, essv6967044, essv6674384, essv6820554, essv6960578, essv6763857, essv6766153, essv6665981, essv6921029
SamplesSSM027, SSM088, SSM029, SSM062, SSM026, SSM017, SSM031, SSM001, SSM078
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)esv2716727
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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