A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732456



Internal ID10316092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96035898..96036086hg38UCSC Ensembl
Outerchr6:96483774..96483962hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727181, essv6903780
SamplesSSM046, SSM013
Known GenesFUT9
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)esv2732456
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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