A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2630480



Internal ID8694038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196757071..196842783hg38UCSC Ensembl
Outerchr1:196726201..196811913hg19UCSC Ensembl
Outerchr1:194992824..195078536hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3885713
hg1985713
hg1885713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5335214
SamplesNA18507
Known GenesCFHR1, CFHR3
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)esv2630480
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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