A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730285



Internal ID10313921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68810103..68810323hg38UCSC Ensembl
Outerchr5:68105930..68106150hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv944e201
Supporting Variantsessv6817921, essv6865325, essv6670782, essv6854899, essv6848771, essv6759845, essv6956637, essv6719206
SamplesSSM087, SSM061, SSM026, SSM089, SSM031, SSM044, SSM086, SSM078
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)esv2730285
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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