A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5220312



Internal ID8312047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44198756..44201266hg38UCSC Ensembl
Outerchr21:45618639..45621149hg19UCSC Ensembl
Outerchr21:44443067..44445577hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382511
hg192511
hg182511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2529415
Supporting Variants
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)essv5220312
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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