A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747298



Internal ID9981582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41003362..41003540hg38UCSC Ensembl
Outerchr13:41577498..41577676hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891404, essv6959512, essv6809494, essv6867343, essv6862561
SamplesSSM088, SSM089, SSM097, SSM075, SSM026
Known GenesELF1
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)esv2747298
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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