A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16493343



Internal ID19010217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40050405..40050405hg38UCSC Ensembl
chr1:40516077..40516077hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3671267
Supporting Variants
Samples
Known GenesCAP1
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)essv16493343
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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