A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15986609



Internal ID6159779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6758233..6759365hg38UCSC Ensembl
Innerchr19:6758233..6759365hg38UCSC Ensembl
Outerchr19:6757999..6759622hg38UCSC Ensembl
chr19:6758244..6759376hg19UCSC Ensembl
Innerchr19:6758244..6759376hg19UCSC Ensembl
Outerchr19:6758010..6759633hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643564
Supporting Variants
SamplesNA19701
Known GenesSH2D3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15986609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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