A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729475



Internal ID9963790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1284971..1285168hg38UCSC Ensembl
Outerchr5:1285086..1285283hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687003, essv6963226, essv6676255, essv6956511, essv6889916, essv6708162, essv6817826, essv6670655, essv6854774, essv6907192, essv6700724
SamplesSSM027, SSM087, SSM097, SSM039, SSM041, SSM026, SSM035, SSM032, SSM031, SSM014, SSM078
Known GenesTERT
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)esv2729475
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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