A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692320



Internal ID9758922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79473503..79473657hg38UCSC Ensembl
Outerchr18:77233503..77233657hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717649, esv2717650, esv2717497, esv2717652
Supporting Variants
SamplesSSM036
Known GenesNFATC1
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)essv6692320
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