A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2455744



Internal ID8519302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30079882..30081304hg38UCSC Ensembl
Outerchr12:30232815..30234237hg19UCSC Ensembl
Outerchr12:30124082..30125504hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381423
hg191423
hg181423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5278395
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)esv2455744
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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