A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2516054



Internal ID1546594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6055058..6056425hg38UCSC Ensembl
Outerchr10:6097021..6098388hg19UCSC Ensembl
Outerchr10:6137027..6138394hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381368
hg191368
hg181368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5301439
SamplesNA18507
Known GenesIL2RA
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)esv2516054
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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