A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2296236



Internal ID7620661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56776954..56777273hg38UCSC Ensembl
Outerchr1:56776747..56777498hg38UCSC Ensembl
Innerchr1:57242627..57242946hg19UCSC Ensembl
Outerchr1:57242420..57243171hg19UCSC Ensembl
Innerchr1:57015215..57015534hg18UCSC Ensembl
Outerchr1:57015008..57015759hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4802800
SamplesNA18507
Known GenesC1orf168
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)esv2296236
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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