A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5193354



Internal ID7938403
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 StatusS
Merged Variantsesv2517463
Supporting Variants
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)essv5193354
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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