A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2038631



Internal ID7709742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:69749869..69750107hg38UCSC Ensembl
Outerchr6:69749704..69750286hg38UCSC Ensembl
Innerchr6:70459761..70459999hg19UCSC Ensembl
Outerchr6:70459596..70460178hg19UCSC Ensembl
Innerchr6:70516482..70516720hg18UCSC Ensembl
Outerchr6:70516317..70516899hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38583
hg19583
hg18583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4694998
SamplesNA18507
Known GenesLMBRD1
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)esv2038631
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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