A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5269331



Internal ID8014380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102877718..102878977hg38UCSC Ensembl
Outerchr10:104637475..104638734hg19UCSC Ensembl
Outerchr10:104627465..104628724hg18UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381260
hg191260
hg181260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2489056
Supporting Variants
SamplesNA18507
Known GenesAS3MT, C10orf32-ASMT
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)essv5269331
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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