A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817329



Internal ID10221767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130044556..130087901hg38UCSC Ensembl
Outerchr3:129763399..129806744hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3843346
hg1943346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725910, esv2725909
Supporting Variants
SamplesSSM078
Known GenesALG1L2
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)essv6817329
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