A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596039



Internal ID6983357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44821987..44838454hg38UCSC Ensembl
Innerchr3:44821987..44838454hg38UCSC Ensembl
Outerchr3:44821487..44838954hg38UCSC Ensembl
chr3:44863479..44879946hg19UCSC Ensembl
Innerchr3:44863479..44879946hg19UCSC Ensembl
Outerchr3:44862979..44880446hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3816468
hg1916468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993619
SamplesNA18528
Known GenesKIF15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596039
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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