A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750305



Internal ID10331275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1226064..1245142hg38UCSC Ensembl
Outerchr16:1276064..1295143hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819079
hg1919080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721139, essv6820250, essv6717261, essv6768851, essv6735485, essv6851946, essv6820251, essv6846306, essv6940813, essv6913048
SamplesSSM064, SSM044, SSM086, SSM085, SSM015, SSM078, SSM022, SSM043, SSM049
Known GenesTPSAB1, TPSB2
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)esv2750305
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer