A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716447



Internal ID10300083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81488089..81488684hg38UCSC Ensembl
Outerchr17:79455115..79455710hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696351, essv6835583, essv6674352, essv6717564, essv6921001, essv6941146, essv6824353, essv6788535, essv6806922, essv6944974, essv6703225, essv6843225, essv6732892, essv6721412, essv6692220, essv6967003, essv6784356, essv6809935, essv6925059, essv6858329, essv6778644, essv6780197, essv6913361, essv6936981, essv6954045, essv6796804, essv6713653, essv6706878, essv6945799, essv6960532, essv6772828, essv6682271, essv6971620, essv6932683, essv6678556, essv6905600, essv6801023, essv6729033, essv6877228, essv6776410, essv6792630, essv6811876, essv6895309, essv6665923, essv6832024
SamplesSSM036, SSM008, SSM071, SSM027, SSM075, SSM046, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM074, SSM042, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM032, SSM003, SSM031, SSM067, SSM044, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM037, SSM022, SSM070, SSM025, SSM043, SSM098
Known Genes
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)esv2716447
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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