A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586302



Internal ID6626615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66856000..66858591hg38UCSC Ensembl
Innerchr1:66856050..66858541hg38UCSC Ensembl
Outerchr1:66855930..66858661hg38UCSC Ensembl
chr1:67321683..67324274hg19UCSC Ensembl
Innerchr1:67321733..67324224hg19UCSC Ensembl
Outerchr1:67321613..67324344hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382592
hg192592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958922, essv9958920, essv9958921, essv9958919
SamplesNA19312, NA19026, HG02508, NA19108
Known GenesWDR78
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586302
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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