A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10359420



Internal ID361236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243619445..243620457hg38UCSC Ensembl
Innerchr1:243619445..243620457hg38UCSC Ensembl
Outerchr1:243619445..243620457hg38UCSC Ensembl
chr1:243782747..243783759hg19UCSC Ensembl
Innerchr1:243782747..243783759hg19UCSC Ensembl
Outerchr1:243782747..243783759hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589393
Supporting Variants
SamplesHG04214
Known GenesAKT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10359420
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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