A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2465251



Internal ID8182124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15149018..15149803hg38UCSC Ensembl
Outerchr10:15191017..15191802hg19UCSC Ensembl
Outerchr10:15231023..15231808hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38458
hg19458
hg18458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5281610
SamplesNA18507
Known GenesNMT2
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)esv2465251
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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