A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990428



Internal ID5992244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10657548..10661097hg38UCSC Ensembl
Innerchr19:10657586..10661059hg38UCSC Ensembl
Outerchr19:10657510..10661135hg38UCSC Ensembl
chr19:10768224..10771773hg19UCSC Ensembl
Innerchr19:10768262..10771735hg19UCSC Ensembl
Outerchr19:10768186..10771811hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643657
Supporting Variants
SamplesHG03775
Known GenesILF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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