A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730816



Internal ID10314452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137845626..137852265hg38UCSC Ensembl
Outerchr5:137181315..137187954hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386640
hg196640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745817, essv6715357, essv6938838, essv6884081, essv6770633
SamplesSSM065, SSM022, SSM055, SSM095, SSM043
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)esv2730816
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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