A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562682



Internal ID18417072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583154..59583974hg38UCSC Ensembl
Outerchr1:59582958..59583999hg38UCSC Ensembl
Innerchr1:60048826..60049646hg19UCSC Ensembl
Outerchr1:60048630..60049671hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761429
Samples
Known GenesFGGY
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562682
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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