A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5330847



Internal ID8075896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:196881..197322hg38UCSC Ensembl
Outerchr12:306047..306488hg19UCSC Ensembl
Outerchr12:176308..176749hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38771
hg19771
hg18771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2627142
Supporting Variants
SamplesNA18507
Known GenesSLC6A12
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)essv5330847
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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