A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16055747



Internal ID6057563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41186250..41191792hg38UCSC Ensembl
Innerchr19:41186254..41191789hg38UCSC Ensembl
Outerchr19:41186247..41191796hg38UCSC Ensembl
chr19:41692155..41697697hg19UCSC Ensembl
Innerchr19:41692159..41697694hg19UCSC Ensembl
Outerchr19:41692152..41697701hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385543
hg195543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644374
Supporting Variants
SamplesNA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16055747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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