A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891082



Internal ID18838792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207523372..207779899hg38UCSC Ensembl
Outerchr1:207523372..207779899hg38UCSC Ensembl
Innerchr1:207696717..207953244hg19UCSC Ensembl
Outerchr1:207696717..207953244hg19UCSC Ensembl
Innerchr1:205763340..206019867hg18UCSC Ensembl
Outerchr1:205763340..206019867hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38256528
hg19256528
hg18256528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779440
Samples
Known GenesCD46, CR1, CR1L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891082
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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