A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2520970



Internal ID8584528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137049703..137050090hg38UCSC Ensembl
Outerchr9:139944155..139944542hg19UCSC Ensembl
Outerchr9:139063976..139064363hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5386806
SamplesNA18507
Known GenesENTPD2
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)esv2520970
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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