A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902173



Internal ID9664929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63723474..63723740hg38UCSC Ensembl
Outerchr20:62354826..62355092hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722961, esv2722959, esv2722960
Supporting Variants
SamplesSSM012
Known GenesZGPAT
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)essv6902173
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