A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5288889



Internal ID8380624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115879188..115880036hg38UCSC Ensembl
Outerchr1:116421809..116422657hg19UCSC Ensembl
Outerchr1:116223332..116224180hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2522498
Supporting Variants
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)essv5288889
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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