A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731220



Internal ID10314856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178294098..178294634hg38UCSC Ensembl
Outerchr5:177721099..177721635hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855056, essv6670949, essv6956800, essv6860669
SamplesSSM087, SSM088, SSM026, SSM031
Known GenesCOL23A1
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)esv2731220
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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