A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731976



Internal ID10315612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41651035..41651529hg38UCSC Ensembl
Outerchr6:41618773..41619267hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826131, essv6893540, essv6907576, essv6795610, essv6872772, essv6943446, essv6887944, essv6805449
SamplesSSM009, SSM074, SSM023, SSM014, SSM010, SSM091, SSM098, SSM012
Known GenesMDFI
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)esv2731976
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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