A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585456



Internal ID6972979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21975980..22000613hg38UCSC Ensembl
Innerchr1:21976055..22000538hg38UCSC Ensembl
Outerchr1:21975905..22000688hg38UCSC Ensembl
chr1:22302473..22327106hg19UCSC Ensembl
Innerchr1:22302548..22327031hg19UCSC Ensembl
Outerchr1:22302398..22327181hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3824634
hg1924634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e214
Supporting Variantsessv9888893, essv9888899, essv9888894, essv9888895, essv9888900, essv9888896, essv9888898, essv9888901, essv9888897
SamplesHG03096, HG01947, HG00097, HG03499, NA18923, HG03460, NA21107, HG00443, NA19085
Known GenesCELA3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585456
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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