A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2573837



Internal ID8637395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:46313596..46316237hg38UCSC Ensembl
Outerchr19:46816853..46819494hg19UCSC Ensembl
Outerchr19:51508693..51511334hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382642
hg192642
hg182642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5334959
SamplesNA18507
Known GenesHIF3A
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)esv2573837
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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