A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997220



Internal ID6968871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14213529..14220363hg38UCSC Ensembl
Innerchr19:14213579..14220313hg38UCSC Ensembl
Outerchr19:14213467..14220425hg38UCSC Ensembl
chr19:14324341..14331175hg19UCSC Ensembl
Innerchr19:14324391..14331125hg19UCSC Ensembl
Outerchr19:14324279..14331237hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg386835
hg196835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643736
Supporting Variants
SamplesNA21143
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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