A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852519



Internal ID9904063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76423591..76423666hg38UCSC Ensembl
Outerchr18:74135547..74135622hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717397, esv2717395, esv2717388, esv2717394
Supporting Variants
SamplesSSM086
Known GenesZNF516
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)essv6852519
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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