A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3651500



Internal ID19369508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37817328..37817328hg38UCSC Ensembl
chr10:38106256..38106256hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16475553
Samples
Known GenesZNF248
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)esv3651500
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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