A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733160



Internal ID9967482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165929881..165929935hg38UCSC Ensembl
Outerchr6:166343369..166343423hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963946
SamplesSSM027
Known GenesLINC00473
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)esv2733160
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer