A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924660



Internal ID6549953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44413772..44417085hg38UCSC Ensembl
chr1:44879444..44882757hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383314
hg193314
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585885
Supporting Variants
SamplesHG01710
Known GenesRNF220
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924660
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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