A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958926



Internal ID6584219
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586303
Supporting Variants
SamplesHG03781
Known GenesWDR78
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958926
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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