A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2559913



Internal ID8276785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69162772..69164423hg38UCSC Ensembl
Outerchr9:71777688..71779339hg19UCSC Ensembl
Outerchr9:70967508..70969159hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381652
hg191652
hg181652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5387348
SamplesNA18507
Known GenesTJP2
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)esv2559913
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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