A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4525500



Internal ID6764446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73711538..73711843hg38UCSC Ensembl
Outerchr6:73711347..73712025hg38UCSC Ensembl
Innerchr6:74421261..74421566hg19UCSC Ensembl
Outerchr6:74421070..74421748hg19UCSC Ensembl
Innerchr6:74477982..74478287hg18UCSC Ensembl
Outerchr6:74477791..74478469hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38679
hg19679
hg18679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2379909
Supporting Variants
SamplesNA18507
Known GenesCD109
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)essv4525500
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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