A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586316



Internal ID6973837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67996399..67999859hg38UCSC Ensembl
Innerchr1:67996410..67999849hg38UCSC Ensembl
Outerchr1:67996389..67999870hg38UCSC Ensembl
chr1:68462082..68465542hg19UCSC Ensembl
Innerchr1:68462093..68465532hg19UCSC Ensembl
Outerchr1:68462072..68465553hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9961179
SamplesHG03740
Known GenesGNG12-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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