A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732814



Internal ID10316450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142840314..142840448hg38UCSC Ensembl
Outerchr6:143161451..143161585hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837535, essv6860999
SamplesSSM083, SSM088
Known GenesHIVEP2
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)esv2732814
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