A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732546



Internal ID9966865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106816634..107364206hg38UCSC Ensembl
Outerchr6:107264509..107685410hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38547573
hg19420902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690540, essv6947879, essv6923141
SamplesSSM036, SSM024, SSM018
Known GenesBEND3, C6orf203, PDSS2
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)esv2732546
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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