A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9840989



Internal ID6466282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1647187..1714507hg38UCSC Ensembl
Innerchr1:1653096..1714007hg38UCSC Ensembl
Outerchr1:1646187..1715507hg38UCSC Ensembl
chr1:1582548..1645946hg19UCSC Ensembl
Innerchr1:1583048..1645446hg19UCSC Ensembl
Outerchr1:1581548..1646946hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3867321
hg1963399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585007
Supporting Variants
SamplesHG01806
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9840989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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