A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16502252



Internal ID19019126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120763202..120763254hg38UCSC Ensembl
chr12:121201005..121201057hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3681164
Supporting Variants
Samples
Known GenesSPPL3
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)essv16502252
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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