A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717442



Internal ID9951733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77259143..77259199hg38UCSC Ensembl
Outerchr18:74971099..74971155hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858490
SamplesSSM087
Known GenesGALR1
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)esv2717442
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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