A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5216836



Internal ID8308571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137948787..137949740hg38UCSC Ensembl
Outerchr9:140843239..140844192hg19UCSC Ensembl
Outerchr9:139963060..139964013hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38361
hg19361
hg18361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2433439
Supporting Variants
SamplesNA18507
Known GenesCACNA1B
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)essv5216836
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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