A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2431202



Internal ID8148074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48834086..48835956hg38UCSC Ensembl
Outerchr19:49337343..49339213hg19UCSC Ensembl
Outerchr19:54029155..54031025hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381871
hg191871
hg181871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5191477
SamplesNA18507
Known GenesHSD17B14
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)esv2431202
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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