A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075240



Internal ID6075512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49518636..49522934hg38UCSC Ensembl
Innerchr19:49518676..49522895hg38UCSC Ensembl
Outerchr19:49518597..49522974hg38UCSC Ensembl
chr19:50021893..50026191hg19UCSC Ensembl
Innerchr19:50021933..50026152hg19UCSC Ensembl
Outerchr19:50021854..50026231hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384299
hg194299
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644626
Supporting Variants
SamplesHG04026
Known GenesFCGRT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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