A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887587



Internal ID10282487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142721325..142753491hg38UCSC Ensembl
Outerchr8:143802743..143834909hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3832167
hg1932167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737925
Supporting Variants
SamplesSSM096
Known GenesLOC100288181, LYPD2, SLURP1, THEM6
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)essv6887587
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