A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2629723



Internal ID8693281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107436139..107437651hg38UCSC Ensembl
Outerchr6:107757343..107758855hg19UCSC Ensembl
Outerchr6:107864036..107865548hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381513
hg191513
hg181513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5348149
SamplesNA18507
Known GenesPDSS2
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)esv2629723
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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