A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10208527



Internal ID2182273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183309882..183365554hg38UCSC Ensembl
chr1:183279017..183334689hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3855673
hg1955673
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588110
Supporting Variants
SamplesHG01971
Known GenesNMNAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10208527
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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