A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715389



Internal ID10299025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:941730..942978hg38UCSC Ensembl
Outerchr17:844970..846218hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898082, essv6750089, essv6703109, essv6776307, essv6766127, essv6839109, essv6796699, essv6945671, essv6960350, essv6874115, essv6713566, essv6721324, essv6665721, essv6867935, essv6824262, essv6953934, essv6803944, essv6758635, essv6943995, essv6912340, essv6717440, essv6905500, essv6901891, essv6941030, essv6913247, essv6936876, essv6879930, essv6717439, essv6871475, essv6888512, essv6725126, essv6780079, essv6839281, essv6809865, essv6696232, essv6761401
SamplesSSM059, SSM083, SSM071, SSM075, SSM045, SSM011, SSM079, SSM039, SSM013, SSM073, SSM093, SSM042, SSM002, SSM023, SSM021, SSM061, SSM029, SSM096, SSM026, SSM089, SSM003, SSM067, SSM044, SSM066, SSM015, SSM037, SSM022, SSM010, SSM091, SSM025, SSM099, SSM043, SSM056, SSM063, SSM012
Known GenesNXN
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)esv2715389
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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