A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990169



Internal ID5991985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9331314..9340641hg38UCSC Ensembl
Innerchr19:9331314..9340641hg38UCSC Ensembl
Outerchr19:9331167..9340763hg38UCSC Ensembl
chr19:9441990..9451317hg19UCSC Ensembl
Innerchr19:9441990..9451317hg19UCSC Ensembl
Outerchr19:9441843..9451439hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg389328
hg199328
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643633
Supporting Variants
SamplesHG00613
Known GenesZNF559, ZNF559-ZNF177
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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