A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731492



Internal ID9965810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3310252..3310387hg38UCSC Ensembl
Outerchr6:3310486..3310621hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956850, essv6854599, essv6687162
SamplesSSM011, SSM026, SSM035
Known GenesSLC22A23
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)esv2731492
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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