A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732467



Internal ID10316103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:98147591..98150152hg38UCSC Ensembl
Outerchr6:98595467..98598028hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg382562
hg192562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760095, essv6841328, essv6918901, essv6826510, essv6796198, essv6911413
SamplesSSM009, SSM084, SSM061, SSM017, SSM015, SSM010
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)esv2732467
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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