A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5271337



Internal ID8016386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29576487..29585530hg38UCSC Ensembl
Outerchr6:29544264..29553307hg19UCSC Ensembl
Outerchr6:29652243..29661286hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg389044
hg199044
hg189044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2504304
Supporting Variants
SamplesNA18507
Known GenesSNORD32B
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)essv5271337
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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