A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5269117



Internal ID8014166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62137085..62138002hg38UCSC Ensembl
Outerchr1:62602757..62603674hg19UCSC Ensembl
Outerchr1:62375345..62376262hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38432
hg19432
hg18432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2514338
Supporting Variants
SamplesNA18507
Known GenesINADL
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)essv5269117
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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