A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754678



Internal ID10164020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167976002..167977015hg38UCSC Ensembl
Outerchr6:168376682..168377695hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733264
Supporting Variants
SamplesSSM058
Known GenesHGC6.3
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)essv6754678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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