A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2495318



Internal ID8212190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38961921..38993162hg38UCSC Ensembl
Outerchr22:39357926..39389167hg19UCSC Ensembl
Outerchr22:37687872..37719113hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3831242
hg1931242
hg1831242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5281583
SamplesNA18507
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)esv2495318
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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