A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2502312



Internal ID8219184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15229056..15230436hg38UCSC Ensembl
Outerchr10:15271055..15272435hg19UCSC Ensembl
Outerchr10:15311061..15312441hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381381
hg191381
hg181381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5285983
SamplesNA18507
Known GenesFAM171A1
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)esv2502312
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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