A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10317416



Internal ID319232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230091282..230092669hg38UCSC Ensembl
Innerchr1:230091282..230092669hg38UCSC Ensembl
Outerchr1:230091140..230092809hg38UCSC Ensembl
chr1:230227029..230228416hg19UCSC Ensembl
Innerchr1:230227029..230228416hg19UCSC Ensembl
Outerchr1:230226887..230228556hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589087
Supporting Variants
SamplesNA18605
Known GenesGALNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10317416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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