A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5377365



Internal ID8122414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73067181..73068118hg38UCSC Ensembl
Outerchr8:73979416..73980353hg19UCSC Ensembl
Outerchr8:74141970..74142907hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38310
hg19310
hg18310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2517224
Supporting Variants
SamplesNA18507
Known GenesSBSPON
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)essv5377365
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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