A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2606093



Internal ID8322965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619118..243620883hg38UCSC Ensembl
Outerchr1:243782420..243784185hg19UCSC Ensembl
Outerchr1:241849043..241850808hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381766
hg191766
hg181766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5343863
SamplesNA18507
Known GenesAKT3
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)esv2606093
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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