A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587257



Internal ID6974684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114196615..114200274hg38UCSC Ensembl
Innerchr1:114196615..114200274hg38UCSC Ensembl
Outerchr1:114196346..114200533hg38UCSC Ensembl
chr1:114739237..114742896hg19UCSC Ensembl
Innerchr1:114739237..114742896hg19UCSC Ensembl
Outerchr1:114738968..114743155hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383660
hg193660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10079269, essv10079268
SamplesHG03016, NA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587257
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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