A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2568002



Internal ID8284874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49877620..49880036hg38UCSC Ensembl
Outerchr12:50271403..50273819hg19UCSC Ensembl
Outerchr12:48557670..48560086hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382417
hg192417
hg182417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5334582
SamplesNA18507
Known GenesFAIM2
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)esv2568002
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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