A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644356



Internal ID7031112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40572727..40573575hg38UCSC Ensembl
Innerchr19:40572751..40573552hg38UCSC Ensembl
Outerchr19:40572704..40573599hg38UCSC Ensembl
chr19:41078633..41079481hg19UCSC Ensembl
Innerchr19:41078657..41079458hg19UCSC Ensembl
Outerchr19:41078610..41079505hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16054828
SamplesNA19099
Known GenesSPTBN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644356
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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