A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730122



Internal ID10313758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41226694..41243853hg38UCSC Ensembl
Outerchr5:41226796..41243955hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817160
hg1917160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683792, essv6922835, essv6704796
SamplesSSM018, SSM040, SSM034
Known GenesC6
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)esv2730122
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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