A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732009



Internal ID10315645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44181678..44182279hg38UCSC Ensembl
Outerchr6:44149415..44150016hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930450, essv6833801
SamplesSSM082, SSM020
Known GenesCAPN11
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)esv2732009
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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