A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2574323



Internal ID8291195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122524947..122526518hg38UCSC Ensembl
Outerchr12:123009494..123011065hg19UCSC Ensembl
Outerchr12:121575447..121577018hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381572
hg191572
hg181572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5209534
SamplesNA18507
Known GenesRSRC2
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)esv2574323
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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