A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732547



Internal ID9966866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107073071..107073414hg38UCSC Ensembl
Outerchr6:107394275..107394618hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947879, essv6923141
SamplesSSM024, SSM018
Known GenesBEND3
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)esv2732547
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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