A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2533735



Internal ID8597293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20764762..20766265hg38UCSC Ensembl
Outerchr6:20764993..20766496hg19UCSC Ensembl
Outerchr6:20872972..20874475hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381504
hg191504
hg181504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5248958
SamplesNA18507
Known GenesCDKAL1
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)esv2533735
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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