A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5343863



Internal ID8088912
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 StatusS
Merged Variantsesv2606093
Supporting Variants
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)essv5343863
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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