A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588377



Internal ID6975793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193904673..193948433hg38UCSC Ensembl
Innerchr1:193904823..193948283hg38UCSC Ensembl
Outerchr1:193904523..193948583hg38UCSC Ensembl
chr1:193873803..193917563hg19UCSC Ensembl
Innerchr1:193873953..193917413hg19UCSC Ensembl
Outerchr1:193873653..193917713hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3843761
hg1943761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70e214
Supporting Variantsessv10240218, essv10240217
SamplesNA20901, HG04118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588377
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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