A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838287



Internal ID9659215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25054870..25125897hg38UCSC Ensembl
Outerchr16:25066191..25137218hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3871028
hg1971028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714121
Supporting Variants
SamplesSSM010
Known GenesLCMT1
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)essv6838287
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