A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619010



Internal ID8682569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:19533184..19534778hg38UCSC Ensembl
Outerchr11:19554731..19556325hg19UCSC Ensembl
Outerchr11:19511307..19512901hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5305502
SamplesNA18507
Known GenesNAV2
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)esv2619010
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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