A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729251



Internal ID10312887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1009847..1011600hg38UCSC Ensembl
Outerchr10:1055787..1057540hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381754
hg191754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927602, essv6775358, essv6976423, essv6695134, essv6856604, essv6838268, essv6768214, essv6958606, essv6802832, essv6787362, essv6897362, essv6737618, essv6779086, essv6965154, essv6952828, essv6752291, essv6935705, essv6884839, essv6819229, essv6958608, essv6861915, essv6866657, essv6684809, essv6743750, essv6842075, essv6861916
SamplesSSM083, SSM027, SSM064, SSM087, SSM009, SSM050, SSM088, SSM057, SSM084, SSM021, SSM069, SSM029, SSM026, SSM089, SSM019, SSM067, SSM066, SSM078, SSM053, SSM005, SSM037, SSM095, SSM025, SSM099
Known GenesGTPBP4
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)esv2729251
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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