A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5187946



Internal ID8279681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54773725..54775169hg38UCSC Ensembl
Outerchr6:54638523..54639967hg19UCSC Ensembl
Outerchr6:54746482..54747926hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381445
hg191445
hg181445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2499778
Supporting Variants
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)essv5187946
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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