A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732455



Internal ID10316091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96035281..96036251hg38UCSC Ensembl
Outerchr6:96483157..96484127hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727181, essv6903780, essv6734405
SamplesSSM046, SSM013, SSM049
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)esv2732455
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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