A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16498603



Internal ID19015477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42923702..42923856hg38UCSC Ensembl
chr7:42963301..42963455hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3677111
Supporting Variants
Samples
Known GenesPSMA2
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)essv16498603
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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