A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10183620



Internal ID6089783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169174963..169178847hg38UCSC Ensembl
Innerchr1:169174964..169178847hg38UCSC Ensembl
Outerchr1:169174963..169178848hg38UCSC Ensembl
chr1:169144201..169148085hg19UCSC Ensembl
Innerchr1:169144202..169148085hg19UCSC Ensembl
Outerchr1:169144201..169148086hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg383885
hg193885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587879
Supporting Variants
SamplesNA19471
Known GenesNME7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10183620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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