A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10253779



Internal ID255596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197146764..197216505hg38UCSC Ensembl
chr1:197115894..197185635hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3869742
hg1969742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588492
Supporting Variants
SamplesHG02012
Known GenesCRB1, ZBTB41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10253779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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