A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2554143



Internal ID1584683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11873231..11875252hg38UCSC Ensembl
Outerchr12:12026165..12028186hg19UCSC Ensembl
Outerchr12:11917432..11919453hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382022
hg192022
hg182022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5273427
SamplesNA18507
Known GenesETV6, RNU6-19P
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)esv2554143
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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