A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2138340



Internal ID7462765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:159626084..159626280hg38UCSC Ensembl
Outerchr3:159625969..159626404hg38UCSC Ensembl
Innerchr3:159343873..159344069hg19UCSC Ensembl
Outerchr3:159343758..159344193hg19UCSC Ensembl
Innerchr3:160826567..160826763hg18UCSC Ensembl
Outerchr3:160826452..160826887hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38436
hg19436
hg18436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4698675
SamplesNA18507
Known GenesIQCJ-SCHIP1, SCHIP1
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)esv2138340
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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