A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16468125



Internal ID19331685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628722..130634265hg38UCSC Ensembl
chr3:130347566..130353109hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385544
hg195544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3683387
Supporting Variants
Samples
Known GenesCOL6A6
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)essv16468125
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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