A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10025013



Internal ID4273683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96254872..96297570hg38UCSC Ensembl
chr1:96720428..96763126hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3842699
hg1942699
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586861
Supporting Variants
SamplesHG03838
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10025013
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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