A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16051047



Internal ID6052863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37110392..37131822hg38UCSC Ensembl
Innerchr19:37110542..37131672hg38UCSC Ensembl
Outerchr19:37110242..37131972hg38UCSC Ensembl
chr19:37601294..37622724hg19UCSC Ensembl
Innerchr19:37601444..37622574hg19UCSC Ensembl
Outerchr19:37601144..37622874hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3821431
hg1921431
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644277
Supporting Variants
SamplesNA21118
Known GenesZNF420
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16051047
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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