A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625074



Internal ID6665227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:669311..702135hg38UCSC Ensembl
Innerchr11:669317..702129hg38UCSC Ensembl
Outerchr11:669305..702141hg38UCSC Ensembl
chr11:669311..702135hg19UCSC Ensembl
Innerchr11:669317..702129hg19UCSC Ensembl
Outerchr11:669305..702141hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3832825
hg1932825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13990153
SamplesHG02095
Known GenesDEAF1, TMEM80
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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