A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16051955



Internal ID6618305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37769130..37822111hg38UCSC Ensembl
Innerchr19:37769630..37821611hg38UCSC Ensembl
Outerchr19:37768130..37823111hg38UCSC Ensembl
chr19:38259770..38312751hg19UCSC Ensembl
Innerchr19:38260270..38312251hg19UCSC Ensembl
Outerchr19:38258770..38313751hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3852982
hg1952982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644293
Supporting Variants
SamplesNA20785
Known GenesLOC644554, ZNF573
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16051955
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer