A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10359990



Internal ID5916104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244124063..244124632hg38UCSC Ensembl
Innerchr1:244124063..244124632hg38UCSC Ensembl
Outerchr1:244123913..244124808hg38UCSC Ensembl
chr1:244287365..244287934hg19UCSC Ensembl
Innerchr1:244287365..244287934hg19UCSC Ensembl
Outerchr1:244287215..244288110hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589402
Supporting Variants
SamplesNA19327
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10359990
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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