A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585007



Internal ID6625326
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840989, essv9840990
SamplesHG03634, HG01806
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585007
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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