A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748558



Internal ID10329528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31344648..31345369hg38UCSC Ensembl
Outerchr14:31813854..31814575hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38722
hg19722
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, essv6737598, essv6857620, essv6862698, essv6867489
SamplesSSM027, SSM011, SSM087, SSM088, SSM047, SSM029, SSM026, SSM089, SSM035, SSM031, SSM001, 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)esv2748558
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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