A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15974444



Internal ID5976260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2992730..2993948hg38UCSC Ensembl
Innerchr19:2992730..2993948hg38UCSC Ensembl
Outerchr19:2992526..2994183hg38UCSC Ensembl
chr19:2992728..2993946hg19UCSC Ensembl
Innerchr19:2992728..2993946hg19UCSC Ensembl
Outerchr19:2992524..2994181hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643450
Supporting Variants
SamplesHG01675
Known GenesTLE6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15974444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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