A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2565676



Internal ID8629234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6612309..6613931hg38UCSC Ensembl
Outerchr6:6612542..6614164hg19UCSC Ensembl
Outerchr6:6557541..6559163hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381623
hg191623
hg181623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5198052
SamplesNA18507
Known GenesLY86, LY86-AS1
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)esv2565676
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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