A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16032726



Internal ID3143125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29757128..29763007hg38UCSC Ensembl
Innerchr19:29757137..29762998hg38UCSC Ensembl
Outerchr19:29757119..29763016hg38UCSC Ensembl
chr19:30248035..30253914hg19UCSC Ensembl
Innerchr19:30248044..30253905hg19UCSC Ensembl
Outerchr19:30248026..30253923hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385880
hg195880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644127
Supporting Variants
SamplesHG02771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16032726
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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