A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957234



Internal ID10065882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:164925554..164925669hg38UCSC Ensembl
Outerchr6:165339043..165339158hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733138, esv2733141
Supporting Variants
SamplesSSM026
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)essv6957234
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