A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10304220



Internal ID2266219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222755765..222755859hg38UCSC Ensembl
Innerchr1:222755764..222755860hg38UCSC Ensembl
Outerchr1:222755765..222755859hg38UCSC Ensembl
chr1:222929107..222929201hg19UCSC Ensembl
Innerchr1:222929202..222929106hg19UCSC Ensembl
Outerchr1:222929107..222929201hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588949
Supporting Variants
SamplesHG02025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10304220
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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