A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2517112



Internal ID8580670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:5025893..5027364hg38UCSC Ensembl
Outerchr9:5025893..5027364hg19UCSC Ensembl
Outerchr9:5015893..5017364hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381472
hg191472
hg181472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5381523
SamplesNA18507
Known GenesJAK2
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2517112
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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