A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715072



Internal ID9949357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88952576..88953283hg38UCSC Ensembl
Outerchr16:89018984..89019691hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668500, essv6674159, essv6703082, essv6706748, essv6936833, essv6971475, essv6924934, essv6788396, essv6953896, essv6920845, essv6858132, essv6913211, essv6949731, essv6792492, essv6839254, essv6717405, essv6772689, essv6696201, essv6796666, essv6966776, essv6784220, essv6945639, essv6932534, essv6824237
SamplesSSM065, SSM027, SSM040, SSM043, SSM031, SSM025, SSM020, SSM071, SSM039, SSM024, SSM083, SSM017, SSM028, SSM030, SSM069, SSM021, SSM037, SSM087, SSM023, SSM079, SSM068, SSM015, SSM018, SSM070
Known GenesCBFA2T3
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)esv2715072
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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