A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5349327



Internal ID8441062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:123572328..123573134hg38UCSC Ensembl
Outerchr10:125331844..125332650hg19UCSC Ensembl
Outerchr10:125321834..125322640hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2492141
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)essv5349327
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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