A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589415



Internal ID6976743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244731635..244736324hg38UCSC Ensembl
Innerchr1:244731652..244736307hg38UCSC Ensembl
Outerchr1:244731618..244736341hg38UCSC Ensembl
chr1:244894937..244899626hg19UCSC Ensembl
Innerchr1:244894954..244899609hg19UCSC Ensembl
Outerchr1:244894920..244899643hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384690
hg194690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360094, essv10360095, essv10360093
SamplesNA18949, NA19086, NA19060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589415
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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