A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894786



Internal ID1150018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28508653..28514940hg38UCSC Ensembl
chr1:28835165..28841452hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg386288
hg196288
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585587
Supporting Variants
SamplesHG01028
Known GenesRCC1, SNHG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894786
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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