A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716705



Internal ID9950993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:4437626..4437893hg38UCSC Ensembl
Outerchr18:4437626..4437893hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977339, essv6916848, essv6913207, essv6885579, essv6732917, essv6863268, essv6761491, essv6874225, essv6872309, essv6685688
SamplesSSM091, SSM061, SSM088, SSM016, SSM011, SSM095, SSM047, SSM002, SSM034, SSM004
Known GenesDLGAP1
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)esv2716705
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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