A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10291361



Internal ID293177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214600126..214605668hg38UCSC Ensembl
Innerchr1:214600626..214605168hg38UCSC Ensembl
Outerchr1:214599126..214606668hg38UCSC Ensembl
chr1:214773469..214779011hg19UCSC Ensembl
Innerchr1:214773969..214778511hg19UCSC Ensembl
Outerchr1:214772469..214780011hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385543
hg195543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588789
Supporting Variants
SamplesNA12489
Known GenesCENPF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10291361
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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