A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2000200



Internal ID7324625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87347107..87353145hg38UCSC Ensembl
Outerchr4:87346927..87353343hg38UCSC Ensembl
Innerchr4:88268259..88274297hg19UCSC Ensembl
Outerchr4:88268079..88274495hg19UCSC Ensembl
Innerchr4:88487283..88493321hg18UCSC Ensembl
Outerchr4:88487103..88493519hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386417
hg196417
hg186417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4780744
SamplesNA18507
Known GenesHSD17B11
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2000200
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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