A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715542



Internal ID9780783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47663600..47664052hg38UCSC Ensembl
Outerchr6:47631336..47631788hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732042, esv2732041
Supporting Variants
SamplesSSM043
Known GenesGPR111
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)essv6715542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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