A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5380898



Internal ID8472633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168315842..168318536hg38UCSC Ensembl
Outerchr6:168716522..168719216hg19UCSC Ensembl
Outerchr6:168459371..168462065hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382695
hg192695
hg182695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2618324
Supporting Variants
SamplesNA18507
Known GenesDACT2
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)essv5380898
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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