A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727183



Internal ID10310819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:11468428..11468660hg38UCSC Ensembl
Outerchr4:11470052..11470284hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722725, essv6736544, essv6794097, essv6751171, essv6817471, essv6781662, essv6711317
SamplesSSM071, SSM045, SSM050, SSM042, SSM057, SSM068, 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)esv2727183
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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