A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715601



Internal ID9949888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7621004..7621555hg38UCSC Ensembl
Outerchr17:7524322..7524873hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976472, essv6665759, essv6725136, essv6668526, essv6971520, essv6932579, essv6735588, essv6924962, essv6912463, essv6744452, essv6772745, essv6812681, essv6696246, essv6713574, essv6717462, essv6758644, essv6898090, essv6800938, essv6721335, essv6678483
SamplesSSM059, SSM045, SSM065, SSM042, SSM002, SSM028, SSM018, SSM029, SSM032, SSM044, SSM072, SSM020, SSM053, SSM037, SSM076, SSM004, SSM099, SSM043, SSM049, SSM030
Known GenesSHBG
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)esv2715601
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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