A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518089



Internal ID1548630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169555099..169556054hg38UCSC Ensembl
Outerchr1:169524337..169525292hg19UCSC Ensembl
Outerchr1:167790961..167791916hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5284643
SamplesNA18507
Known GenesF5
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)esv2518089
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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