A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589005



Internal ID6976421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226004530..226006126hg38UCSC Ensembl
Innerchr1:226004580..226006076hg38UCSC Ensembl
Outerchr1:226004480..226006176hg38UCSC Ensembl
chr1:226192231..226193827hg19UCSC Ensembl
Innerchr1:226192281..226193777hg19UCSC Ensembl
Outerchr1:226192181..226193877hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309195
SamplesHG01988
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589005
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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