A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2620801



Internal ID8684359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:46452413..46454095hg38UCSC Ensembl
Outerchr19:46955670..46957352hg19UCSC Ensembl
Outerchr19:51647510..51649192hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381683
hg191683
hg181683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5255982
SamplesNA18507
Known Genes
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)esv2620801
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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