A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3679487



Internal ID19397495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49069970..49070288hg38UCSC Ensembl
chr10:50278015..50278333hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16500742
Samples
Known GenesVSTM4
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)esv3679487
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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