A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748559



Internal ID10329529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31344674..31344846hg38UCSC Ensembl
Outerchr14:31813880..31814052hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868020, essv6732391, essv6909122, essv6673597, essv6820023, essv6688485, essv6966227, essv6977711, essv6851622, essv6959716, essv6857620, essv6862698, essv6867489
SamplesSSM027, SSM011, SSM087, SSM088, SSM047, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM078
Known GenesHEATR5A
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)esv2748559
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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