A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9936112



Internal ID2331260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55801200..55833319hg38UCSC Ensembl
chr1:56266873..56298992hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3832120
hg1932120
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586117
Supporting Variants
SamplesHG02073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9936112
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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