A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054816



Internal ID2646445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40462367..40465148hg38UCSC Ensembl
Innerchr19:40462417..40465098hg38UCSC Ensembl
Outerchr19:40462313..40465202hg38UCSC Ensembl
chr19:40968274..40971055hg19UCSC Ensembl
Innerchr19:40968324..40971005hg19UCSC Ensembl
Outerchr19:40968220..40971109hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382782
hg192782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644350
Supporting Variants
SamplesHG02339
Known GenesBLVRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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