A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716173



Internal ID10299809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:71855998..71856323hg38UCSC Ensembl
Outerchr17:69852139..69852464hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882838, essv6665881, essv6966967, essv6945769, essv6674316, essv6872087, essv6703208, essv6828412, essv6852319, essv6685667, essv6796782, essv6909537, essv6891858, essv6824336, essv6863221, essv6960481, essv6792609, essv6678538, essv6820503, essv6788514, essv6839351, essv6868033, essv6696328, essv6721394, essv6710082, essv6858294
SamplesSSM083, SSM071, SSM027, SSM011, SSM079, SSM087, SSM097, SSM039, SSM088, SSM041, SSM023, SSM069, SSM029, SSM026, SSM089, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM078, SSM080, SSM037, SSM070, SSM034
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)esv2716173
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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