A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1932842



Internal ID7257273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:152068858..152071097hg38UCSC Ensembl
Outerchr6:152068653..152071296hg38UCSC Ensembl
Innerchr6:152389993..152392232hg19UCSC Ensembl
Outerchr6:152389788..152392431hg19UCSC Ensembl
Innerchr6:152431686..152433925hg18UCSC Ensembl
Outerchr6:152431481..152434124hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382644
hg192644
hg182644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4832826
SamplesNA18507
Known GenesESR1
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)esv1932842
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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