A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5278093



Internal ID8369828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:146741317..146742806hg38UCSC Ensembl
Outerchr6:147062453..147063942hg19UCSC Ensembl
Outerchr6:147104146..147105635hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2451551
Supporting Variants
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)essv5278093
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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