A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716680



Internal ID9950968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2757220..2757479hg38UCSC Ensembl
Outerchr18:2757218..2757477hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685684
SamplesSSM034
Known GenesSMCHD1
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)esv2716680
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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