A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730787



Internal ID9965104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132275104..132275834hg38UCSC Ensembl
Outerchr5:131610797..131611527hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv956e201
Supporting Variantsessv6854981, essv6963444, essv6770626, essv6774461, essv6841079, essv6896641, essv6704853, essv6790349, essv6854130
SamplesSSM027, SSM011, SSM065, SSM087, SSM084, SSM066, SSM040, SSM070, SSM099
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)esv2730787
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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