A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715570



Internal ID10299206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5561284..5561729hg38UCSC Ensembl
Outerchr17:5464604..5465049hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678481, essv6796713, essv6706785, essv6812677, essv6710023, essv6976439, essv6966851, essv6688809, essv6909479, essv6960383, essv6874125, essv6777733, essv6824271, essv6743210
SamplesSSM008, SSM071, SSM027, SSM079, SSM041, SSM026, SSM035, SSM032, SSM014, SSM040, SSM007, SSM076, SSM091, SSM004
Known GenesNLRP1
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)esv2715570
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