A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597677



Internal ID6637945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126206612..126209251hg38UCSC Ensembl
Innerchr3:126206618..126209246hg38UCSC Ensembl
Outerchr3:126206607..126209257hg38UCSC Ensembl
chr3:125925455..125928094hg19UCSC Ensembl
Innerchr3:125925461..125928089hg19UCSC Ensembl
Outerchr3:125925450..125928100hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382640
hg192640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11131746
SamplesHG03777
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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