A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731515



Internal ID10315151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:5895080..5895487hg38UCSC Ensembl
Outerchr6:5895313..5895720hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723137, essv6794557, essv6922959
SamplesSSM071, SSM045, SSM018
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)esv2731515
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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