A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5201882



Internal ID7946931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13216936..13219768hg38UCSC Ensembl
Outerchr10:13258936..13261768hg19UCSC Ensembl
Outerchr10:13298942..13301774hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382833
hg192833
hg182833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2523863
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)essv5201882
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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