A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5313726



Internal ID8405461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:36536611..36538409hg38UCSC Ensembl
Outerchr10:36825539..36827337hg19UCSC Ensembl
Outerchr10:36865545..36867343hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2476794
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)essv5313726
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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