A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542130



Internal ID18743206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97867081..97867348hg38UCSC Ensembl
Outerchr7:97867015..97867362hg38UCSC Ensembl
Innerchr7:97496393..97496660hg19UCSC Ensembl
Outerchr7:97496327..97496674hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv444e215
Supporting Variantsessv9740877
Samples
Known GenesASNS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542130
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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