A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588613



Internal ID6628904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204162103..204166718hg38UCSC Ensembl
Innerchr1:204162116..204166706hg38UCSC Ensembl
Outerchr1:204162091..204166731hg38UCSC Ensembl
chr1:204131231..204135846hg19UCSC Ensembl
Innerchr1:204131244..204135834hg19UCSC Ensembl
Outerchr1:204131219..204135859hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384616
hg194616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266767
SamplesNA19026
Known GenesREN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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