A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644347



Internal ID6684415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40384438..40386487hg38UCSC Ensembl
Innerchr19:40384451..40386475hg38UCSC Ensembl
Outerchr19:40384426..40386500hg38UCSC Ensembl
chr19:40890345..40892394hg19UCSC Ensembl
Innerchr19:40890358..40892382hg19UCSC Ensembl
Outerchr19:40890333..40892407hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16054813
SamplesHG01811
Known GenesHIPK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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