A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932438



Internal ID6557731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54590783..54598454hg38UCSC Ensembl
chr1:55056456..55064127hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg387672
hg197672
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586096
Supporting Variants
SamplesNA21133
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932438
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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