A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619366



Internal ID7006244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5106500..5113281hg38UCSC Ensembl
Innerchr9:5106500..5113281hg38UCSC Ensembl
Outerchr9:5106000..5113781hg38UCSC Ensembl
chr9:5106500..5113281hg19UCSC Ensembl
Innerchr9:5106500..5113281hg19UCSC Ensembl
Outerchr9:5106000..5113781hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg386782
hg196782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13384099, essv13384096, essv13384093, essv13384091, essv13384097, essv13384095, essv13384094, essv13384100, essv13384098, essv13384090, essv13384092
SamplesHG03298, NA19379, HG03370, HG03457, NA19982, HG03428, NA19449, HG03024, HG03473, HG03557, NA18505
Known GenesJAK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619366
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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