A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3676970



Internal ID19394978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6463881..6464018hg38UCSC Ensembl
chr7:6503512..6503649hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16498477
Samples
Known GenesKDELR2
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)esv3676970
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer