A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9974185



Internal ID6599478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73908170..74175415hg38UCSC Ensembl
chr1:74373853..74641099hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38267246
hg19267247
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586446
Supporting Variants
SamplesHG01807
Known GenesLRRIQ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9974185
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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