A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056304



Internal ID6058120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42530406..42533921hg38UCSC Ensembl
Innerchr19:42530453..42533875hg38UCSC Ensembl
Outerchr19:42530360..42533968hg38UCSC Ensembl
chr19:43034558..43038073hg19UCSC Ensembl
Innerchr19:43034605..43038027hg19UCSC Ensembl
Outerchr19:43034512..43038120hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383516
hg193516
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644401
Supporting Variants
SamplesNA19247
Known GenesLIPE-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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