A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2441837



Internal ID8505395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133970419..133971727hg38UCSC Ensembl
Outerchr6:134291557..134292865hg19UCSC Ensembl
Outerchr6:134333250..134334558hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381309
hg191309
hg181309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5350272
SamplesNA18507
Known GenesTBPL1
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)esv2441837
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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