A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285346



Internal ID4650993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211202589..211218773hg38UCSC Ensembl
chr1:211375931..211392115hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3816185
hg1916185
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588728
Supporting Variants
SamplesHG04182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285346
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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