A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2598233



Internal ID8315105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137784842..137785931hg38UCSC Ensembl
Outerchr9:140679294..140680383hg19UCSC Ensembl
Outerchr9:139799115..139800204hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38202
hg19202
hg18202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5222822
SamplesNA18507
Known GenesEHMT1
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)esv2598233
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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