A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5222101



Internal ID7967150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3618558..3619022hg38UCSC Ensembl
Outerchr18:3618557..3619021hg19UCSC Ensembl
Outerchr18:3608557..3609021hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38740
hg19740
hg18740
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2559439
Supporting Variants
SamplesNA18507
Known GenesDLGAP1
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)essv5222101
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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