A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586303



Internal ID6626616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66919026..66920232hg38UCSC Ensembl
Innerchr1:66919027..66920231hg38UCSC Ensembl
Outerchr1:66919025..66920233hg38UCSC Ensembl
chr1:67384709..67385915hg19UCSC Ensembl
Innerchr1:67384710..67385914hg19UCSC Ensembl
Outerchr1:67384708..67385916hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958925, essv9958927, essv9958923, essv9958926, essv9958924
SamplesHG03698, NA19443, HG03727, HG03600, HG03781
Known GenesWDR78
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586303
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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