A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718639



Internal ID9952931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45770221..45770333hg38UCSC Ensembl
Outerchr19:46273479..46273591hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961037
SamplesSSM026
Known GenesDMPK
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)esv2718639
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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