A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16474774



Internal ID18991648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173834757..173834757hg38UCSC Ensembl
chr1:173803895..173803895hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3650634
Supporting Variants
Samples
Known GenesDARS2
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)essv16474774
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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