A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5378581



Internal ID8470316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165618926..165619872hg38UCSC Ensembl
Outerchr6:166032414..166033360hg19UCSC Ensembl
Outerchr6:165952404..165953350hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38462
hg19462
hg18462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2636877
Supporting Variants
SamplesNA18507
Known GenesPDE10A
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)essv5378581
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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