A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5264657



Internal ID8009706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3172375..3176068hg38UCSC Ensembl
Outerchr19:3172373..3176066hg19UCSC Ensembl
Outerchr19:3123373..3127066hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383694
hg193694
hg183694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2463657
Supporting Variants
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)essv5264657
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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