A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2622567



Internal ID8339439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88668103..88668570hg38UCSC Ensembl
Outerchr16:88734511..88734978hg19UCSC Ensembl
Outerchr16:87262012..87262479hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38767
hg19767
hg18767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5351210
SamplesNA18507
Known GenesSNAI3-AS1
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)esv2622567
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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