A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732482



Internal ID10316118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:100457815..100458254hg38UCSC Ensembl
Outerchr6:100905691..100906130hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957112, essv6671200, essv6974891, essv6794730
SamplesSSM071, SSM029, SSM026, SSM031
Known GenesSIM1
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)esv2732482
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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