A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4924971



Internal ID7510603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:67771154..67771187hg38UCSC Ensembl
Outerchr15:67770939..67771394hg38UCSC Ensembl
Innerchr15:68063492..68063525hg19UCSC Ensembl
Outerchr15:68063277..68063732hg19UCSC Ensembl
Innerchr15:65850546..65850579hg18UCSC Ensembl
Outerchr15:65850331..65850786hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38456
hg19456
hg18456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2352022
Supporting Variants
SamplesNA18507
Known GenesMAP2K5
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)essv4924971
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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