A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712007



Internal ID10124580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170253169..170253561hg38UCSC Ensembl
Outerchr6:170562257..170562649hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733599, esv2733563
Supporting Variants
SamplesSSM042
Known Genes
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)essv6712007
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