A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5245087



Internal ID8336822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166285373..166285592hg38UCSC Ensembl
Outerchr6:166698861..166699080hg19UCSC Ensembl
Outerchr6:166618851..166619070hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381044
hg191044
hg181044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2485459
Supporting Variants
SamplesNA18507
Known Genes
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)essv5245087
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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