A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5220629



Internal ID8312364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:221297915..221299188hg38UCSC Ensembl
Outerchr1:221471257..221472530hg19UCSC Ensembl
Outerchr1:219537880..219539153hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2471455
Supporting Variants
SamplesNA18507
Known Genes
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)essv5220629
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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