A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748780



Internal ID9983064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63752142..63752577hg38UCSC Ensembl
Outerchr14:64218860..64219295hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768720, essv6747061, essv6741327, essv6749883, essv6792146, essv6820051, essv6808265, essv6977754, essv6959757, essv6912888, essv6779730, essv6758427, essv6920495, essv6765936, essv6868287, essv6835141, essv6901589, essv6717082
SamplesSSM059, SSM011, SSM064, SSM009, SSM029, SSM026, SSM017, SSM067, SSM082, SSM015, SSM078, SSM055, SSM070, SSM043, SSM052, SSM056, SSM063, SSM012
Known Genes
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)esv2748780
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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