A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5308412



Internal ID8053461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:16073702..16075091hg38UCSC Ensembl
Outerchr5:16073811..16075200hg19UCSC Ensembl
Outerchr5:16126811..16128200hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381390
hg191390
hg181390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2567134
Supporting Variants
SamplesNA18507
Known GenesMARCH11
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)essv5308412
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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