A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738046



Internal ID9972385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143980764..143981685hg38UCSC Ensembl
Outerchr8:145054932..145055853hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791298, essv6787195, essv6688821, essv6952685, essv6861738, essv6866469, essv6831187, essv6935532, essv6834426, essv6976147, essv6667951, essv6677285, essv6672276, essv6778936, essv6958328, essv6775227, essv6905207, essv6912059, essv6838128, essv6708043
SamplesSSM083, SSM088, SSM002, SSM021, SSM069, SSM029, SSM026, SSM089, SSM032, SSM031, SSM067, SSM001, SSM066, SSM006, SSM082, SSM015, SSM010, SSM070, SSM025, SSM030
Known GenesPARP10
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)esv2738046
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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