A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2518087



Internal ID8581646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:57254943..57256555hg38UCSC Ensembl
Outerchr10:59014703..59016315hg19UCSC Ensembl
Outerchr10:58684709..58686321hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381613
hg191613
hg181613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5205062
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)esv2518087
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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