A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6893409



Internal ID9940864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:7817434..8348225hg38UCSC Ensembl
Outerchr6:7817667..8348458hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38530792
hg19530792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731544
Supporting Variants
SamplesSSM098
Known GenesBLOC1S5, BLOC1S5-TXNDC5, BMP6, EEF1E1, EEF1E1-BLOC1S5, PIP5K1P1, SCARNA27, TXNDC5
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)essv6893409
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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