A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715786



Internal ID9950073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28371046..28371979hg38UCSC Ensembl
Outerchr17:26698067..26699000hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665801, essv6877177, essv6800954, essv6891822, essv6871215, essv6721347, essv6879958, essv6971545, essv6811343, essv6772759, essv6713595, essv6706815, essv6901116, essv6806870, essv6867981, essv6777899, essv6668540, essv6966897, essv6945715, essv6816025, essv6803971, essv6674251, essv6776339, essv6895252, essv6824295, essv6949792, essv6912608, essv6839310, essv6953977, essv6920927, essv6846461, essv6809887, essv6760486, essv6835524, essv6678502, essv6843159, essv6750115, essv6916765, essv6725163, essv6780123, essv6761433, essv6732829, essv6932608
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM079, SSM065, SSM097, SSM009, SSM073, SSM093, SSM074, SSM042, SSM002, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM061, SSM029, SSM089, SSM017, SSM032, SSM031, SSM067, SSM044, SSM001, SSM066, SSM085, SSM040, SSM072, SSM082, SSM020, SSM016, SSM077, SSM025, SSM098, SSM056, SSM030
Known GenesSARM1
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)esv2715786
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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