A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5198786



Internal ID7943835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158126630..158128651hg38UCSC Ensembl
Outerchr6:158547662..158549683hg19UCSC Ensembl
Outerchr6:158467650..158469671hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg382022
hg192022
hg182022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2527722
Supporting Variants
SamplesNA18507
Known GenesSERAC1
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)essv5198786
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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