A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2596411



Internal ID8659970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146715358..146716968hg38UCSC Ensembl
Outerchr6:147036494..147038104hg19UCSC Ensembl
Outerchr6:147078187..147079797hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5352624
SamplesNA18507
Known GenesADGB
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)esv2596411
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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