A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585563



Internal ID6625880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27780675..27783936hg38UCSC Ensembl
Innerchr1:27780675..27783936hg38UCSC Ensembl
Outerchr1:27780599..27784301hg38UCSC Ensembl
chr1:28107186..28110447hg19UCSC Ensembl
Innerchr1:28107186..28110447hg19UCSC Ensembl
Outerchr1:28107110..28110812hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894325, essv9894321, essv9894319, essv9894318, essv9894323, essv9894324, essv9894320, essv9894322
SamplesHG01986, HG02628, HG03052, HG03479, HG02471, HG02582, NA19093, HG01914
Known GenesSTX12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585563
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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