A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491336



Internal ID19354896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56202127..56202127hg38UCSC Ensembl
chr12:56595911..56595911hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669036
Supporting Variants
Samples
Known Genes
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)essv16491336
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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