A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2621841



Internal ID8685399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222894673..222898374hg38UCSC Ensembl
Outerchr2:223759391..223763092hg19UCSC Ensembl
Outerchr2:223467635..223471336hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383702
hg193702
hg183702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5315918
SamplesNA18507
Known GenesACSL3
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)esv2621841
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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