A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5263430



Internal ID8355165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115760843..115761833hg38UCSC Ensembl
Outerchr1:116303464..116304454hg19UCSC Ensembl
Outerchr1:116104987..116105977hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2458208
Supporting Variants
SamplesNA18507
Known GenesCASQ2
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)essv5263430
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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