A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5205078



Internal ID7950127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46236589..46239240hg38UCSC Ensembl
Outerchr21:47656503..47659154hg19UCSC Ensembl
Outerchr21:46480931..46483582hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382652
hg192652
hg182652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2641041
Supporting Variants
SamplesNA18507
Known GenesMCM3AP, MCM3AP-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)essv5205078
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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