A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10359957



Internal ID361773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243673501..243674454hg38UCSC Ensembl
Innerchr1:243673551..243674404hg38UCSC Ensembl
Outerchr1:243673437..243674518hg38UCSC Ensembl
chr1:243836803..243837756hg19UCSC Ensembl
Innerchr1:243836853..243837706hg19UCSC Ensembl
Outerchr1:243836739..243837820hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589394
Supporting Variants
SamplesNA11893
Known GenesAKT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10359957
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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