A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2587417



Internal ID8304289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46188898..46191269hg38UCSC Ensembl
Outerchr21:47608812..47611183hg19UCSC Ensembl
Outerchr21:46433240..46435611hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382372
hg192372
hg182372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5321699
SamplesNA18507
Known GenesLSS
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)esv2587417
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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