A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5228384



Internal ID7973433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49611478..49612023hg38UCSC Ensembl
Outerchr12:50005261..50005806hg19UCSC Ensembl
Outerchr12:48291528..48292073hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38565
hg19565
hg18565
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2638901
Supporting Variants
SamplesNA18507
Known Genes
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)essv5228384
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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