A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2555363



Internal ID8272235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165689412..165690358hg38UCSC Ensembl
Outerchr1:165658649..165659595hg19UCSC Ensembl
Outerchr1:163925273..163926219hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5294020
SamplesNA18507
Known GenesALDH9A1
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)esv2555363
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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