A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5301133



Internal ID8046182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40943121..40944102hg38UCSC Ensembl
Outerchr15:41235319..41236300hg19UCSC Ensembl
Outerchr15:39022611..39023592hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506979
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)essv5301133
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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