A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16066422



Internal ID6946620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45127769..45135059hg38UCSC Ensembl
Innerchr19:45127818..45135011hg38UCSC Ensembl
Outerchr19:45127721..45135108hg38UCSC Ensembl
chr19:45631027..45638317hg19UCSC Ensembl
Innerchr19:45631076..45638269hg19UCSC Ensembl
Outerchr19:45630979..45638366hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg387291
hg197291
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644499
Supporting Variants
SamplesNA21128
Known GenesPPP1R37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16066422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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