A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16488260



Internal ID19351820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432900..112433169hg38UCSC Ensembl
chr2:113190477..113190746hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3665617
Supporting Variants
Samples
Known GenesRGPD5, RGPD8
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)essv16488260
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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