A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2461232



Internal ID8524790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73445599..73447193hg38UCSC Ensembl
Outerchr6:74155322..74156916hg19UCSC Ensembl
Outerchr6:74212043..74213637hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5339785
SamplesNA18507
Known GenesMB21D1
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)esv2461232
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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