A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960700



Internal ID9716286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77018299..77018373hg38UCSC Ensembl
Outerchr18:74730255..74730329hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717425, esv2717388, esv2717424
Supporting Variants
SamplesSSM026
Known GenesMBP
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)essv6960700
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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