A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16049695



Internal ID6051511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36630846..36712941hg38UCSC Ensembl
Innerchr19:36630846..36712941hg38UCSC Ensembl
Outerchr19:36630346..36713441hg38UCSC Ensembl
chr19:37121748..37203843hg19UCSC Ensembl
Innerchr19:37121748..37203843hg19UCSC Ensembl
Outerchr19:37121248..37204343hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3882096
hg1982096
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644265
Supporting Variants
SamplesHG01947
Known GenesZNF461, ZNF567
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16049695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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