A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589004



Internal ID6629295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225973546..225984106hg38UCSC Ensembl
Innerchr1:225974045..225983606hg38UCSC Ensembl
Outerchr1:225972546..225985106hg38UCSC Ensembl
chr1:226161246..226171807hg19UCSC Ensembl
Innerchr1:226161746..226171307hg19UCSC Ensembl
Outerchr1:226160246..226172807hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3810561
hg1910562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309194
SamplesHG00598
Known GenesSDE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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