A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546534



Internal ID18400924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77590683..77591469hg38UCSC Ensembl
Outerchr10:77590661..77591624hg38UCSC Ensembl
Innerchr10:79350441..79351227hg19UCSC Ensembl
Outerchr10:79350419..79351382hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745281
Samples
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546534
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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