A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10493409



Internal ID495225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48543022..48554610hg38UCSC Ensembl
Innerchr2:48543522..48554110hg38UCSC Ensembl
Outerchr2:48542022..48555610hg38UCSC Ensembl
chr2:48770161..48781749hg19UCSC Ensembl
Innerchr2:48770661..48781249hg19UCSC Ensembl
Outerchr2:48769161..48782749hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3811589
hg1911589
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590653
Supporting Variants
SamplesHG01571
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10493409
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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