A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10943021



Internal ID678263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19815439..19908335hg38UCSC Ensembl
Innerchr3:19815439..19908335hg38UCSC Ensembl
Outerchr3:19814939..19908835hg38UCSC Ensembl
chr3:19856931..19949827hg19UCSC Ensembl
Innerchr3:19856931..19949827hg19UCSC Ensembl
Outerchr3:19856431..19950327hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3892897
hg1992897
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595465
Supporting Variants
SamplesHG00319
Known GenesEFHB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10943021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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