A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2580719



Internal ID8297591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29363284..29420505hg38UCSC Ensembl
Outerchr22:29759273..29816494hg19UCSC Ensembl
Outerchr22:28089273..28146494hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3857222
hg1957222
hg1857222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5288411
SamplesNA18507
Known GenesAP1B1
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)esv2580719
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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