A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675781



Internal ID10092910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84650336..84653718hg38UCSC Ensembl
Outerchr3:84699487..84702869hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg383383
hg193383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725617
Supporting Variants
SamplesSSM032
Known GenesLINC00971
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)essv6675781
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