A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731265



Internal ID10314901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178793366..178794142hg38UCSC Ensembl
Outerchr5:178220367..178221143hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922938, essv6774511, essv6794529, essv6884116, essv6790386, essv6872630, essv6730765, essv6943240, essv6719295, essv6896675, essv6878515, essv6704885, essv6711719, essv6830066, essv6745857, essv6767412, essv6844796, essv6926676, essv6727599, essv6918625, essv6951755, essv6887086, essv6934578, essv6959607, essv6786270, essv6754426, essv6824976, essv6782070, essv6938875, essv6963525, essv6814217, essv6739871, essv6778063
SamplesSSM071, SSM027, SSM064, SSM093, SSM042, SSM023, SSM058, SSM021, SSM047, SSM018, SSM069, SSM017, SSM019, SSM067, SSM044, SSM066, SSM085, SSM068, SSM081, SSM040, SSM007, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM052, SSM012
Known Genes
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)esv2731265
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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