A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16482845



Internal ID18999719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28826611..28826611hg38UCSC Ensembl
chr2:29049477..29049477hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3659601
Supporting Variants
Samples
Known GenesSPDYA
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)essv16482845
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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