A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710187



Internal ID9774005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76967407..76967850hg38UCSC Ensembl
Outerchr18:74679363..74679806hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717423, esv2717388
Supporting Variants
SamplesSSM041
Known GenesZNF236
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)essv6710187
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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