A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716041



Internal ID10299677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50836461..50836710hg38UCSC Ensembl
Outerchr17:48913822..48914071hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941102, essv6871245, essv6804001, essv6920960, essv6710071, essv6949827, essv6780160, essv6688853, essv6732857, essv6776369, essv6912841, essv6665859, essv6788502, essv6696311, essv6792590, essv6721381, essv6772787, essv6796767
SamplesSSM071, SSM024, SSM065, SSM073, SSM002, SSM041, SSM090, SSM047, SSM069, SSM029, SSM017, SSM035, SSM067, SSM044, SSM066, SSM037, SSM022, SSM070
Known GenesWFIKKN2
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)esv2716041
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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