A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2493801



Internal ID8557359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31640649..31643171hg38UCSC Ensembl
Outerchr22:32036635..32039157hg19UCSC Ensembl
Outerchr22:30366635..30369157hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382523
hg192523
hg182523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5234810
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)esv2493801
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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