A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161392



Internal ID8252701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8732247..8825791hg38UCSC Ensembl
Innerchr7:8771877..8865421hg19UCSC Ensembl
Innerchr7:8738402..8831946hg18UCSC Ensembl
Innerchr7:8545117..8638661hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3893545
hg1993545
hg1893545
hg1793545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422215
Supporting Variants
SamplesND01588
Known GenesNXPH1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161392
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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