A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5168512



Internal ID7913561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93784649..93786238hg38UCSC Ensembl
Outerchr1:94250205..94251794hg19UCSC Ensembl
Outerchr1:94022793..94024382hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381590
hg191590
hg181590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2442893
Supporting Variants
SamplesNA18507
Known GenesBCAR3
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)essv5168512
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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