A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733072



Internal ID9967394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161153621..161153806hg38UCSC Ensembl
Outerchr6:161574653..161574838hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957225, essv6671320
SamplesSSM031, SSM026
Known GenesAGPAT4
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)esv2733072
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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