A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586038



Internal ID6626352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51528769..51532037hg38UCSC Ensembl
Innerchr1:51528788..51532018hg38UCSC Ensembl
Outerchr1:51528750..51532056hg38UCSC Ensembl
chr1:51994441..51997709hg19UCSC Ensembl
Innerchr1:51994460..51997690hg19UCSC Ensembl
Outerchr1:51994422..51997728hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383269
hg193269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929316
SamplesHG01709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586038
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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