A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731466



Internal ID9965784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2694424..2694515hg38UCSC Ensembl
Outerchr6:2694658..2694749hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907428
SamplesSSM014
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)esv2731466
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