A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943548



Internal ID9705425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149762454..149763183hg38UCSC Ensembl
Outerchr6:150083590..150084319hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732863, esv2732861
Supporting Variants
SamplesSSM023
Known GenesPCMT1
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)essv6943548
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