A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079290



Internal ID81106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114592824..114620609hg38UCSC Ensembl
chr1:115135445..115163230hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3827786
hg1927786
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587267
Supporting Variants
SamplesHG02188
Known GenesDENND2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079290
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