A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10253780



Internal ID255597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197157545..197347526hg38UCSC Ensembl
Innerchr1:197157545..197347526hg38UCSC Ensembl
Outerchr1:197157045..197348026hg38UCSC Ensembl
chr1:197126675..197316656hg19UCSC Ensembl
Innerchr1:197126675..197316656hg19UCSC Ensembl
Outerchr1:197126175..197317156hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38189982
hg19189982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588493
Supporting Variants
SamplesHG02012
Known GenesCRB1, ZBTB41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10253780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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