A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2476778



Internal ID8193650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2256053..2256757hg38UCSC Ensembl
Outerchr12:2365219..2365923hg19UCSC Ensembl
Outerchr12:2235480..2236184hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38535
hg19535
hg18535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5230607
SamplesNA18507
Known GenesCACNA1C
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)esv2476778
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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