A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16033394



Internal ID6035210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30454716..30456620hg38UCSC Ensembl
Innerchr19:30454716..30456620hg38UCSC Ensembl
Outerchr19:30454680..30456686hg38UCSC Ensembl
chr19:30945623..30947527hg19UCSC Ensembl
Innerchr19:30945623..30947527hg19UCSC Ensembl
Outerchr19:30945587..30947593hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381905
hg191905
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644137
Supporting Variants
SamplesHG02108
Known GenesZNF536
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16033394
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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