A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715942



Internal ID10299578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41865277..41865793hg38UCSC Ensembl
Outerchr17:40021530..40022046hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415e201
Supporting Variantsessv6920946, essv6728978, essv6788483, essv6732840, essv6776350, essv6800971, essv6925001, essv6960439, essv6828382, essv6792572, essv6717505, essv6710053, essv6913310, essv6703168, essv6966923, essv6971566, essv6839323, essv6852283, essv6932622, essv6772773, essv6769027, essv6796750, essv6725175, essv6780139
SamplesSSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM065, SSM039, SSM041, SSM028, SSM047, SSM018, SSM069, SSM026, SSM017, SSM067, SSM086, SSM066, SSM072, SSM020, SSM015, SSM080, SSM070, SSM043
Known GenesKLHL11
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)esv2715942
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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