A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16477648



Internal ID18994522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49069498..49069498hg38UCSC Ensembl
chr12:49463281..49463281hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3653827
Supporting Variants
Samples
Known GenesRHEBL1
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)essv16477648
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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