A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16467408



Internal ID19330968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177350920..177351350hg38UCSC Ensembl
chr2:178215648..178216078hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682591
Supporting Variants
Samples
Known GenesLOC100130691
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)essv16467408
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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