A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761853



Internal ID10001738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146812502..146819188hg38UCSC Ensembl
Outerchr6:147133638..147140324hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386687
hg196687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741555
Supporting Variants
SamplesSSM008
Known GenesADGB
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)essv6761853
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