A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5256751



Internal ID8001800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33220624..33222026hg38UCSC Ensembl
Outerchr21:34592929..34594331hg19UCSC Ensembl
Outerchr21:33514799..33516201hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381403
hg191403
hg181403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2561799
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)essv5256751
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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