A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16496662



Internal ID19360222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42997601..42997667hg38UCSC Ensembl
chr1:43463272..43463338hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3674954
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)essv16496662
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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