A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726088



Internal ID10309724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155619139..155619300hg38UCSC Ensembl
Outerchr3:155336928..155337089hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv782e201
Supporting Variantsessv6793973, essv6777539, essv6714869, essv6933975, essv6774031, essv6848069, essv6670011, essv6869193, essv6973574, essv6711215, essv6903110
SamplesSSM071, SSM013, SSM042, SSM090, SSM021, SSM029, SSM031, SSM067, SSM086, SSM066, SSM043
Known GenesPLCH1
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)esv2726088
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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