A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588605



Internal ID6628896
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266216, essv10266217
SamplesNA19752, NA19661
Known GenesSNRPE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588605
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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