A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3664713



Internal ID19382721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72059366..72059366hg38UCSC Ensembl
chr3:72108517..72108517hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16487445
Samples
Known GenesLINC00877
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)esv3664713
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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