A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16032724



Internal ID659337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29676979..29682964hg38UCSC Ensembl
Innerchr19:29677020..29682923hg38UCSC Ensembl
Outerchr19:29676938..29683005hg38UCSC Ensembl
chr19:30167886..30173871hg19UCSC Ensembl
Innerchr19:30167927..30173830hg19UCSC Ensembl
Outerchr19:30167845..30173912hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385986
hg195986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644126
Supporting Variants
SamplesHG00306
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16032724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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