A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2598737



Internal ID8662295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105379232..105380667hg38UCSC Ensembl
Outerchr12:105773010..105774445hg19UCSC Ensembl
Outerchr12:104297140..104298575hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381436
hg191436
hg181436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5368096
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)esv2598737
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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