A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10271348



Internal ID6251480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205856980..205874844hg38UCSC Ensembl
chr1:205826108..205843972hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3817865
hg1917865
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588643
Supporting Variants
SamplesNA19776
Known GenesLOC284581
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10271348
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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