A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13752104



Internal ID1882573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:34733295..34857006hg38UCSC Ensembl
chr10:35022223..35145934hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg38123712
hg19123712
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622879
Supporting Variants
SamplesHG01775
Known GenesPARD3, PARD3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13752104
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer