A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5335144



Internal ID8080193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2694221..2695092hg38UCSC Ensembl
Outerchr6:2694455..2695326hg19UCSC Ensembl
Outerchr6:2639454..2640325hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2434989
Supporting Variants
SamplesNA18507
Known GenesMYLK4
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)essv5335144
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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