A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5263402



Internal ID8008451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:10481515..10482831hg38UCSC Ensembl
Outerchr10:10523478..10524794hg19UCSC Ensembl
Outerchr10:10563484..10564800hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2610254
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)essv5263402
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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