A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2556331



Internal ID8619889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1579504..1613949hg38UCSC Ensembl
Outerchr20:1560150..1594595hg19UCSC Ensembl
Outerchr20:1508150..1542595hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3834446
hg1934446
hg1834446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5335771
SamplesNA18507
Known GenesSIRPB1
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)esv2556331
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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