A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2517463



Internal ID8234335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137818105..137820161hg38UCSC Ensembl
Outerchr9:140712557..140714613hg19UCSC Ensembl
Outerchr9:139832378..139834434hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382057
hg192057
hg182057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5193354
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)esv2517463
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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