A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5222578



Internal ID7967627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243757145..243758601hg38UCSC Ensembl
Outerchr1:243920447..243921903hg19UCSC Ensembl
Outerchr1:241987070..241988526hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2648270
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)essv5222578
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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