A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4706615



Internal ID7292247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139057539..139057842hg38UCSC Ensembl
Outerchr7:139057334..139058050hg38UCSC Ensembl
Innerchr7:138742285..138742588hg19UCSC Ensembl
Outerchr7:138742080..138742796hg19UCSC Ensembl
Innerchr7:138392825..138393128hg18UCSC Ensembl
Outerchr7:138392620..138393336hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2303577
Supporting Variants
SamplesNA18507
Known GenesZC3HAV1
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)essv4706615
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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