A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002736



Internal ID1927337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16303494..16310094hg38UCSC Ensembl
Innerchr19:16303544..16310044hg38UCSC Ensembl
Outerchr19:16303356..16310232hg38UCSC Ensembl
chr19:16414305..16420905hg19UCSC Ensembl
Innerchr19:16414355..16420855hg19UCSC Ensembl
Outerchr19:16414167..16421043hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386601
hg196601
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643793
Supporting Variants
SamplesHG01799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002736
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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