A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643484



Internal ID6683557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3939296..3940003hg38UCSC Ensembl
Innerchr19:3939296..3940003hg38UCSC Ensembl
Outerchr19:3938987..3940245hg38UCSC Ensembl
chr19:3939294..3940001hg19UCSC Ensembl
Innerchr19:3939294..3940001hg19UCSC Ensembl
Outerchr19:3938985..3940243hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15980284, essv15980286, essv15980283, essv15980282, essv15980285, essv15980287, essv15980288
SamplesHG00334, NA07051, HG00256, HG00259, HG00133, HG01705, NA12156
Known GenesNMRK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643484
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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