A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2495435



Internal ID8558993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43678850..43679596hg38UCSC Ensembl
Outerchr19:44183002..44183748hg19UCSC Ensembl
Outerchr19:48874842..48875588hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38527
hg19527
hg18527
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5289016
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)esv2495435
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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