A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780335



Internal ID9839096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79473441..79473725hg38UCSC Ensembl
Outerchr18:77233441..77233725hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717649, esv2717650, esv2717497, esv2717652
Supporting Variants
SamplesSSM067
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)essv6780335
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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