A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9739869



Internal ID18714115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7337509..7337566hg38UCSC Ensembl
chr1:7397569..7397626hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3541122
Supporting Variants
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9739869
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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