A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5240588



Internal ID8332323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10081148..10082188hg38UCSC Ensembl
Outerchr12:10233747..10234787hg19UCSC Ensembl
Outerchr12:10125014..10126054hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38157
hg19157
hg18157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2431271
Supporting Variants
SamplesNA18507
Known GenesCLEC1A
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)essv5240588
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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