A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967206



Internal ID9725540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79477342..79477821hg38UCSC Ensembl
Outerchr18:77237342..77237821hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717497
Supporting Variants
SamplesSSM027
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)essv6967206
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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