A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10246937



Internal ID5153733
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588468
Supporting Variants
SamplesNA18582
Known GenesCFH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10246937
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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