A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15984206



Internal ID434743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5982738..5984321hg38UCSC Ensembl
Innerchr19:5982797..5984263hg38UCSC Ensembl
Outerchr19:5982680..5984380hg38UCSC Ensembl
chr19:5982749..5984332hg19UCSC Ensembl
Innerchr19:5982808..5984274hg19UCSC Ensembl
Outerchr19:5982691..5984391hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381584
hg191584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643545
Supporting Variants
SamplesHG00133
Known GenesLOC100128568
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15984206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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