A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107546



Internal ID1806286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58504443..58506337hg38UCSC Ensembl
Innerchr19:58504469..58506311hg38UCSC Ensembl
Outerchr19:58504417..58506363hg38UCSC Ensembl
chr19:59015810..59017704hg19UCSC Ensembl
Innerchr19:59015836..59017678hg19UCSC Ensembl
Outerchr19:59015784..59017730hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644936
Supporting Variants
SamplesHG01680
Known GenesSLC27A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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