A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588678



Internal ID6976094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207871033..207875370hg38UCSC Ensembl
Innerchr1:207871060..207875343hg38UCSC Ensembl
Outerchr1:207871006..207875397hg38UCSC Ensembl
chr1:208044378..208048715hg19UCSC Ensembl
Innerchr1:208044405..208048688hg19UCSC Ensembl
Outerchr1:208044351..208048742hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384338
hg194338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10280512, essv10280511
SamplesHG03963, HG03838
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588678
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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