A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2652527



Internal ID1683067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:72616282..72617090hg38UCSC Ensembl
Outerchr9:75231198..75232006hg19UCSC Ensembl
Outerchr9:74421018..74421826hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38340
hg19340
hg18340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5314026
SamplesNA18507
Known GenesTMC1
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)esv2652527
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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