A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6048502



Internal ID9025905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42530384..42533943hg38UCSC Ensembl
chr19:43034536..43038095hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673373
Supporting Variants
SamplesNA18505
Known GenesLIPE-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6048502
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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