A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644606



Internal ID6684672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48890893..48916976hg38UCSC Ensembl
Innerchr19:48891393..48916476hg38UCSC Ensembl
Outerchr19:48889893..48917976hg38UCSC Ensembl
chr19:49394150..49420233hg19UCSC Ensembl
Innerchr19:49394650..49419733hg19UCSC Ensembl
Outerchr19:49393150..49421233hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3826084
hg1926084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075044
SamplesHG00327
Known GenesNUCB1, TULP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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