A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792830



Internal ID9848421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51395481..51395621hg38UCSC Ensembl
Outerchr20:50012018..50012158hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722510, esv2722511, esv2722509
Supporting Variants
SamplesSSM070
Known GenesNFATC2
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)essv6792830
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