A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10266217



Internal ID268033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203857833..203861993hg38UCSC Ensembl
Innerchr1:203857833..203861993hg38UCSC Ensembl
Outerchr1:203857333..203862493hg38UCSC Ensembl
chr1:203826961..203831121hg19UCSC Ensembl
Innerchr1:203826961..203831121hg19UCSC Ensembl
Outerchr1:203826461..203831621hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384161
hg194161
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588605
Supporting Variants
SamplesNA19752
Known GenesSNRPE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10266217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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