A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5249954



Internal ID8341689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35136125..35138247hg38UCSC Ensembl
Outerchr6:35103902..35106024hg19UCSC Ensembl
Outerchr6:35211880..35214002hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382123
hg192123
hg182123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2633690
Supporting Variants
SamplesNA18507
Known GenesTCP11
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)essv5249954
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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