A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2521669



Internal ID8238541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25076896..25077848hg38UCSC Ensembl
Outerchr12:25229830..25230782hg19UCSC Ensembl
Outerchr12:25121097..25122049hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38328
hg19328
hg18328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5239758
SamplesNA18507
Known GenesLRMP
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)esv2521669
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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