A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5219020



Internal ID8310755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25110538..25112026hg38UCSC Ensembl
Outerchr12:25263472..25264960hg19UCSC Ensembl
Outerchr12:25154739..25156227hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381489
hg191489
hg181489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2471634
Supporting Variants
SamplesNA18507
Known GenesCASC1
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)essv5219020
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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