A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716376



Internal ID10300012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80354986..80356000hg38UCSC Ensembl
Outerchr17:78328786..78329800hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828429, essv6824351, essv6665915, essv6713650, essv6949861, essv6780190, essv6784351, essv6729027, essv6710103, essv6772818, essv6732885, essv6960521, essv6863235, essv6688873, essv6692077, essv6941135, essv6776406, essv6868055, essv6699224
SamplesSSM024, SSM046, SSM079, SSM065, SSM038, SSM042, SSM088, SSM041, SSM047, SSM029, SSM026, SSM089, SSM035, SSM067, SSM066, SSM068, SSM005, SSM080, SSM022
Known GenesLOC100294362, RNF213
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)esv2716376
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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