A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594357



Internal ID6634633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219236349..219237364hg38UCSC Ensembl
Innerchr2:219236386..219237327hg38UCSC Ensembl
Outerchr2:219236312..219237401hg38UCSC Ensembl
chr2:220101071..220102086hg19UCSC Ensembl
Innerchr2:220101108..220102049hg19UCSC Ensembl
Outerchr2:220101034..220102123hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381016
hg191016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10854726
SamplesHG01247
Known GenesANKZF1, GLB1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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