A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716592



Internal ID10300228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83025134..83025546hg38UCSC Ensembl
Outerchr17:80983010..80983422hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769077, essv6796823, essv6863257, essv6721428, essv6858352, essv6792644, essv6945822, essv6784371, essv6703241, essv6758708, essv6945140, essv6909561, essv6665949, essv6824374, essv6809945, essv6820540, essv6744524, essv6880025, essv6710118
SamplesSSM059, SSM071, SSM075, SSM064, SSM079, SSM087, SSM039, SSM093, SSM088, SSM041, SSM023, SSM029, SSM003, SSM044, SSM014, SSM068, SSM078, SSM053, SSM070
Known GenesB3GNTL1
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)esv2716592
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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