A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787945



Internal ID10192066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78020018..78020384hg38UCSC Ensembl
Outerchr13:78594153..78594519hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747698
Supporting Variants
SamplesSSM069
Known GenesLINC00446
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)essv6787945
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