A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589422



Internal ID6976750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244981261..245007918hg38UCSC Ensembl
Innerchr1:244981261..245007918hg38UCSC Ensembl
Outerchr1:244980761..245008418hg38UCSC Ensembl
chr1:245144563..245171220hg19UCSC Ensembl
Innerchr1:245144563..245171220hg19UCSC Ensembl
Outerchr1:245144063..245171720hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3826658
hg1926658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360158
SamplesNA12776
Known GenesEFCAB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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