A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729239



Internal ID10312875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1009843..1010905hg38UCSC Ensembl
Outerchr10:1055783..1056845hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775358, essv6695134, essv6856604, essv6763146, essv6838268, essv6958606, essv6802832, essv6787362, essv6737618, essv6779086, essv6952828, essv6935705, essv6861915, essv6866657, essv6684809, essv6743750, essv6842075
SamplesSSM083, SSM087, SSM009, SSM050, SSM088, SSM084, SSM021, SSM069, SSM062, SSM026, SSM089, SSM067, SSM066, SSM053, SSM005, SSM037, SSM025
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)esv2729239
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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