A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10344706



Internal ID1926513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239693262..239703681hg38UCSC Ensembl
Innerchr1:239693262..239703681hg38UCSC Ensembl
Outerchr1:239693021..239703914hg38UCSC Ensembl
chr1:239856562..239866981hg19UCSC Ensembl
Innerchr1:239856562..239866981hg19UCSC Ensembl
Outerchr1:239856321..239867214hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810420
hg1910420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589280
Supporting Variants
SamplesHG01798
Known GenesCHRM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10344706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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