A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239915



Internal ID4606829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193105463..193107920hg38UCSC Ensembl
Innerchr1:193105465..193107918hg38UCSC Ensembl
Outerchr1:193105461..193107922hg38UCSC Ensembl
chr1:193074593..193077050hg19UCSC Ensembl
Innerchr1:193074595..193077048hg19UCSC Ensembl
Outerchr1:193074591..193077052hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382458
hg192458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588364
Supporting Variants
SamplesHG04141
Known GenesGLRX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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