A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716698



Internal ID9950986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3832925..3833376hg38UCSC Ensembl
Outerchr18:3832925..3833376hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717592, essv6960569, essv6678582, essv6696379, essv6796829, essv6921020, essv6812088, essv6932701, essv6674378, essv6925080, essv6937002, essv6913381
SamplesSSM043, SSM031, SSM020, SSM071, SSM032, SSM017, SSM009, SSM021, SSM037, SSM015, SSM026, SSM018
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)esv2716698
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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