A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731278



Internal ID9965595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179229152..179229589hg38UCSC Ensembl
Outerchr5:178656153..178656590hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739872, essv6974581, essv6670956, essv6811202, essv6855060, essv6694036, essv6848939, essv6907412
SamplesSSM086, SSM031, SSM029, SSM037, SSM087, SSM052, SSM014, SSM076
Known GenesADAMTS2
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)esv2731278
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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