A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2634610



Internal ID8351483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:22844321..22846335hg38UCSC Ensembl
Outerchr16:22855642..22857656hg19UCSC Ensembl
Outerchr16:22763143..22765157hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382015
hg192015
hg182015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5214924
SamplesNA18507
Known GenesHS3ST2
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)esv2634610
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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