A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2471817



Internal ID8535375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:79332111..79333886hg38UCSC Ensembl
Outerchr10:81091868..81093643hg19UCSC Ensembl
Outerchr10:80761874..80763649hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381776
hg191776
hg181776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5364380
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)esv2471817
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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