A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16466825



Internal ID18983699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73203803..73204116hg38UCSC Ensembl
chr2:73430931..73431244hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3677041
Supporting Variants
Samples
Known GenesNOTO
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)essv16466825
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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