A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5204641



Internal ID7949690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11213082..11214176hg38UCSC Ensembl
Outerchr2:11353208..11354302hg19UCSC Ensembl
Outerchr2:11270659..11271753hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2592438
Supporting Variants
SamplesNA18507
Known GenesROCK2
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)essv5204641
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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