A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2451132



Internal ID8514690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8371603..8373123hg38UCSC Ensembl
Outerchr18:8371601..8373121hg19UCSC Ensembl
Outerchr18:8361601..8363121hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg381521
hg191521
hg181521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5233673
SamplesNA18507
Known GenesPTPRM
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)esv2451132
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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