A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5177002



Internal ID8268737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:58410107..58411603hg38UCSC Ensembl
Outerchr19:58921474..58922970hg19UCSC Ensembl
Outerchr19:63613286..63614782hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381497
hg191497
hg181497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2546940
Supporting Variants
SamplesNA18507
Known GenesZNF584
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)essv5177002
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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