A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2573129



Internal ID8290001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128813815..128814877hg38UCSC Ensembl
Outerchr12:129298360..129299422hg19UCSC Ensembl
Outerchr12:127864313..127865375hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38174
hg19174
hg18174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5230439
SamplesNA18507
Known GenesSLC15A4
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)esv2573129
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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