A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5303676



Internal ID8395411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:10069944..10071542hg38UCSC Ensembl
Outerchr6:10070177..10071775hg19UCSC Ensembl
Outerchr6:10178163..10179761hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2610910
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)essv5303676
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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