A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054318



Internal ID2447445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38968121..39015299hg38UCSC Ensembl
Innerchr19:38968621..39014799hg38UCSC Ensembl
Outerchr19:38967121..39016299hg38UCSC Ensembl
chr19:39458761..39505939hg19UCSC Ensembl
Innerchr19:39459261..39505439hg19UCSC Ensembl
Outerchr19:39457761..39506939hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3847179
hg1947179
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644315
Supporting Variants
SamplesHG02153
Known GenesFBXO17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054318
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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