A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9951267



Internal ID6576560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64080306..64081490hg38UCSC Ensembl
Innerchr1:64080308..64081489hg38UCSC Ensembl
Outerchr1:64080305..64081492hg38UCSC Ensembl
chr1:64545979..64547163hg19UCSC Ensembl
Innerchr1:64545981..64547162hg19UCSC Ensembl
Outerchr1:64545978..64547165hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586252
Supporting Variants
SamplesNA21142
Known GenesROR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9951267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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