A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731314



Internal ID10314950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180015293..180015557hg38UCSC Ensembl
Outerchr5:179442293..179442557hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6887153, essv6676434, essv6951760, essv6854488, essv6805314, essv6745861, essv6822345, essv6956811, essv6899592, essv6719297, essv6878519, essv6903621, essv6687148, essv6818067, essv6727022
SamplesSSM100, SSM046, SSM011, SSM079, SSM013, SSM093, SSM074, SSM026, SSM035, SSM032, SSM044, SSM078, SSM055, SSM025, SSM012
Known GenesMIR340, RNF130
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)esv2731314
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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