A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868171



Internal ID9918149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77258971..77259055hg38UCSC Ensembl
Outerchr18:74970927..74971011hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717439, esv2717388, esv2717441, esv2717437
Supporting Variants
SamplesSSM089
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)essv6868171
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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