A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2576321



Internal ID8293193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:89454442..89455560hg38UCSC Ensembl
Outerchr12:89848219..89849337hg19UCSC Ensembl
Outerchr12:88372350..88373468hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38143
hg19143
hg18143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5376939
SamplesNA18507
Known GenesPOC1B
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)esv2576321
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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