A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2520232



Internal ID8583790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125387212..125391082hg38UCSC Ensembl
Outerchr6:125708358..125712228hg19UCSC Ensembl
Outerchr6:125750057..125753927hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg383871
hg193871
hg183871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5325230
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)esv2520232
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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