A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715781



Internal ID9950068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27642048..27760680hg38UCSC Ensembl
Outerchr17:25969074..26087706hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38118633
hg19118633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725160, essv6901114, essv6879957, essv6710045, essv6835523, essv6688830, essv6725161, essv6877175, essv6816023, essv6756050, essv6803970, essv6761432, essv6816024, essv6753024, essv6852252, essv6971544, essv6753025, essv6714954, essv6882805, essv6812701, essv6960420, essv6976639, essv6895251, essv6843157, essv6901115, essv6792561, essv6725162, essv6843158, essv6780122, essv6960419, essv6879956, essv6874145, essv6668539, essv6852251, essv6769013, essv6936920, essv6800953, essv6852250, essv6941071, essv6732828, essv6913293
SamplesSSM022, SSM092, SSM082, SSM086, SSM006, SSM091, SSM084, SSM061, SSM064, SSM035, SSM072, SSM057, SSM045, SSM067, SSM094, SSM041, SSM077, SSM093, SSM100, SSM028, SSM030, SSM047, SSM073, SSM021, SSM004, SSM015, SSM026, SSM098, SSM076, SSM058, SSM070
Known GenesLGALS9, NOS2
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)esv2715781
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer