A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732570



Internal ID9966889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110402094..110402488hg38UCSC Ensembl
Outerchr6:110723297..110723691hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849248
SamplesSSM086
Known GenesDDO
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)esv2732570
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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