A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5316017



Internal ID8407752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:159304539..159305582hg38UCSC Ensembl
Outerchr6:159725571..159726614hg19UCSC Ensembl
Outerchr6:159645561..159646604hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38165
hg19165
hg18165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2601544
Supporting Variants
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)essv5316017
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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