A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3653609



Internal ID19024931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21636344..21636344hg38UCSC Ensembl
chr12:21789278..21789278hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16477451
Samples
Known GenesLDHB
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3653609
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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