A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4756625



Internal ID6995571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:29423218..29423787hg38UCSC Ensembl
Outerchr10:29423028..29423988hg38UCSC Ensembl
Innerchr10:29712147..29712716hg19UCSC Ensembl
Outerchr10:29711957..29712917hg19UCSC Ensembl
Innerchr10:29752153..29752722hg18UCSC Ensembl
Outerchr10:29751963..29752923hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg38961
hg19961
hg18961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2127127
Supporting Variants
SamplesNA18507
Known Genes
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)essv4756625
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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