A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733579



Internal ID10317215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170170602..170170826hg38UCSC Ensembl
Outerchr6:170485826..170486050hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964014, essv6934915, essv6975096, essv6794835
SamplesSSM071, SSM027, SSM021, SSM029
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)esv2733579
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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