A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790409



Internal ID9850588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6598751..6598896hg38UCSC Ensembl
Outerchr6:6598984..6599129hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731534, esv2731535
Supporting Variants
SamplesSSM070
Known GenesLY86, LY86-AS1
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)essv6790409
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