A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585131



Internal ID6625449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7848735..7849453hg38UCSC Ensembl
Innerchr1:7848735..7849453hg38UCSC Ensembl
Outerchr1:7848445..7849710hg38UCSC Ensembl
chr1:7908795..7909513hg19UCSC Ensembl
Innerchr1:7908795..7909513hg19UCSC Ensembl
Outerchr1:7908505..7909770hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9847530, essv9847531, essv9847532, essv9847528, essv9847529
SamplesNA21128, HG02224, NA21098, HG01705, HG00310
Known GenesUTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585131
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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