A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759575



Internal ID10002183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1745099..1745633hg38UCSC Ensembl
Outerchr6:1745333..1745867hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731441
Supporting Variants
SamplesSSM008
Known GenesGMDS
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)essv6759575
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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