A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588468



Internal ID6975885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196683832..196685372hg38UCSC Ensembl
Innerchr1:196683832..196685372hg38UCSC Ensembl
Outerchr1:196683750..196685451hg38UCSC Ensembl
chr1:196652962..196654502hg19UCSC Ensembl
Innerchr1:196652962..196654502hg19UCSC Ensembl
Outerchr1:196652880..196654581hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381541
hg191541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10246937
SamplesNA18582
Known GenesCFH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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