A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588990



Internal ID6976406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225392959..225400357hg38UCSC Ensembl
Innerchr1:225392959..225400357hg38UCSC Ensembl
Outerchr1:225392692..225400607hg38UCSC Ensembl
chr1:225580661..225588059hg19UCSC Ensembl
Innerchr1:225580661..225588059hg19UCSC Ensembl
Outerchr1:225580394..225588309hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg387399
hg197399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10308241
SamplesHG02682
Known GenesDNAH14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588990
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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