A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16006928



Internal ID6008744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19816649..19818108hg38UCSC Ensembl
Innerchr19:19816649..19818108hg38UCSC Ensembl
Outerchr19:19816322..19818329hg38UCSC Ensembl
chr19:19927458..19928917hg19UCSC Ensembl
Innerchr19:19927458..19928917hg19UCSC Ensembl
Outerchr19:19927131..19929138hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643858
Supporting Variants
SamplesHG02725
Known GenesZNF506
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16006928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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