A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497592



Internal ID19361152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1355363..1355546hg38UCSC Ensembl
chr6:1355598..1355781hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675987
Supporting Variants
Samples
Known Genes
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)essv16497592
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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