A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541423



Internal ID18742499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550905..31552248hg38UCSC Ensembl
Outerchr7:31550634..31552388hg38UCSC Ensembl
Innerchr7:31590519..31591862hg19UCSC Ensembl
Outerchr7:31590248..31592002hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381755
hg191755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9740170
Samples
Known GenesCCDC129
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541423
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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