A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2449741



Internal ID8513299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29458424..29465734hg38UCSC Ensembl
Outerchr19:29949331..29956641hg19UCSC Ensembl
Outerchr19:34641171..34648481hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg387311
hg197311
hg187311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5291583
SamplesNA18507
Known GenesLOC284395
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)esv2449741
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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