A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542401



Internal ID18743477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:127159947..127169446hg38UCSC Ensembl
Outerchr7:127158947..127169946hg38UCSC Ensembl
Innerchr7:126800001..126809500hg19UCSC Ensembl
Outerchr7:126799001..126810000hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3811000
hg1911000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741148
Samples
Known GenesGRM8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542401
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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