A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16489397



Internal ID19006271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52694461..52694461hg38UCSC Ensembl
chr1:53160133..53160133hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3666881
Supporting Variants
Samples
Known GenesSELRC1
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)essv16489397
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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