A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071056



Internal ID6072872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47657354..47665879hg38UCSC Ensembl
Innerchr19:47657354..47665879hg38UCSC Ensembl
Outerchr19:47656854..47666379hg38UCSC Ensembl
chr19:48160611..48169136hg19UCSC Ensembl
Innerchr19:48160611..48169136hg19UCSC Ensembl
Outerchr19:48160111..48169636hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg388526
hg198526
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644556
Supporting Variants
SamplesHG02166
Known GenesGLTSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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