A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585694



Internal ID6973214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33878395..33883470hg38UCSC Ensembl
Innerchr1:33878395..33883470hg38UCSC Ensembl
Outerchr1:33878194..33883669hg38UCSC Ensembl
chr1:34343996..34349071hg19UCSC Ensembl
Innerchr1:34343996..34349071hg19UCSC Ensembl
Outerchr1:34343795..34349270hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385076
hg195076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9896641
SamplesHG04194
Known GenesCSMD2, LOC402779
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585694
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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