A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5322244



Internal ID8413979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54425816..54431030hg38UCSC Ensembl
Outerchr18:51952186..51957400hg19UCSC Ensembl
Outerchr18:50206184..50211398hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385215
hg195215
hg185215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2641960
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)essv5322244
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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