A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644936



Internal ID7031687
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16107546, essv16107545
SamplesHG01602, HG01680
Known GenesSLC27A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644936
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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