A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2457492



Internal ID8521051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124755121..124756618hg38UCSC Ensembl
Outerchr9:127517400..127518897hg19UCSC Ensembl
Outerchr9:126557221..126558718hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381498
hg191498
hg181498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5191832
SamplesNA18507
Known GenesNR6A1
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)esv2457492
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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