A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644450



Internal ID7031205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43155473..43347033hg38UCSC Ensembl
Innerchr19:43155973..43346533hg38UCSC Ensembl
Outerchr19:43154473..43348033hg38UCSC Ensembl
chr19:43659625..43851185hg19UCSC Ensembl
Innerchr19:43660125..43850685hg19UCSC Ensembl
Outerchr19:43658625..43852185hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38191561
hg19191561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16059398, essv16059400, essv16059397, essv16059403, essv16059399, essv16059402, essv16059401
SamplesNA12155, HG01325, NA20774, HG01048, HG00176, NA20792, HG00255
Known GenesLOC284344, PSG4, PSG5, PSG9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644450
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer