A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4593675



Internal ID6832621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:138572460..138572500hg38UCSC Ensembl
Outerchr7:138572264..138572688hg38UCSC Ensembl
Innerchr7:138257205..138257245hg19UCSC Ensembl
Outerchr7:138257009..138257433hg19UCSC Ensembl
Innerchr7:137907745..137907785hg18UCSC Ensembl
Outerchr7:137907549..137907973hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38425
hg19425
hg18425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2292840
Supporting Variants
SamplesNA18507
Known GenesTRIM24
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)essv4593675
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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