A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805574



Internal ID10209391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170236707..170237391hg38UCSC Ensembl
Outerchr6:170546497..170546749hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38685
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733591, esv2733590, esv2733592, esv2733563
Supporting Variants
SamplesSSM074
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)essv6805574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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