A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608395



Internal ID6648634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26151399..26158981hg38UCSC Ensembl
chr6:26151627..26159209hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg387583
hg197583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12232489, essv12232492, essv12232488, essv12232490, essv12232494, essv12232491, essv12232487, essv12232495, essv12232493
SamplesHG02184, HG00244, HG02410, HG01113, HG00451, HG02429, HG02052, HG01945, HG02095
Known GenesHIST1H1E, HIST1H2BD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608395
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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