A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542044



Internal ID18396434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88039269..88042921hg38UCSC Ensembl
Outerchr7:88039186..88043685hg38UCSC Ensembl
Innerchr7:87668584..87672236hg19UCSC Ensembl
Outerchr7:87668501..87673000hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740791
Samples
Known GenesADAM22
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542044
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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