A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2580547



Internal ID8644105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166584893..166587250hg38UCSC Ensembl
Outerchr6:166998381..167000738hg19UCSC Ensembl
Outerchr6:166918371..166920728hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382358
hg192358
hg182358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5329493
SamplesNA18507
Known GenesRPS6KA2
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)esv2580547
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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