A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9972684



Internal ID1945295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73801784..73938688hg38UCSC Ensembl
chr1:74267467..74404371hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38136905
hg19136905
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586442
Supporting Variants
SamplesHG01807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9972684
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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