A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555991



Internal ID18410381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8449544..8449829hg38UCSC Ensembl
Outerchr19:8449500..8449875hg38UCSC Ensembl
Innerchr19:8514428..8514713hg19UCSC Ensembl
Outerchr19:8514384..8514759hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754738
Samples
Known GenesHNRNPM
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555991
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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