A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2496466



Internal ID8213338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69826960..69828339hg38UCSC Ensembl
Outerchr12:70220740..70222119hg19UCSC Ensembl
Outerchr12:68507007..68508386hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381380
hg191380
hg181380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5311223
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)esv2496466
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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