A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2597499



Internal ID8314371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206781011..206782503hg38UCSC Ensembl
Outerchr1:206954356..206955848hg19UCSC Ensembl
Outerchr1:205020979..205022471hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381493
hg191493
hg181493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5251871
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)esv2597499
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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