A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731465



Internal ID9965783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2694102..2694845hg38UCSC Ensembl
Outerchr6:2694336..2695079hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794098, essv6969256, essv6896688, essv6907428
SamplesSSM099, SSM009, SSM028, SSM014
Known GenesMYLK4
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)esv2731465
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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