A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2593623



Internal ID8310495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25819917..25820235hg38UCSC Ensembl
Outerchr22:26215884..26216202hg19UCSC Ensembl
Outerchr22:24545884..24546202hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38940
hg19940
hg18940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5209130
SamplesNA18507
Known GenesMIR1302-1, MYO18B
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)esv2593623
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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