A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16498541



Internal ID19015415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111793203..111793267hg38UCSC Ensembl
chr1:112335825..112335889hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3677042
Supporting Variants
Samples
Known GenesKCND3
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)essv16498541
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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