A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10257443



Internal ID259259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198316592..198769083hg38UCSC Ensembl
Innerchr1:198317092..198768583hg38UCSC Ensembl
Outerchr1:198315592..198770083hg38UCSC Ensembl
chr1:198285722..198738212hg19UCSC Ensembl
Innerchr1:198286222..198737712hg19UCSC Ensembl
Outerchr1:198284722..198739212hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38452492
hg19452491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588521
Supporting Variants
SamplesHG01459
Known GenesATP6V1G3, NEK7, PTPRC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10257443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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