A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585889



Internal ID6626203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44683066..44721951hg38UCSC Ensembl
Innerchr1:44683086..44721931hg38UCSC Ensembl
Outerchr1:44683046..44721971hg38UCSC Ensembl
chr1:45148738..45187623hg19UCSC Ensembl
Innerchr1:45148758..45187603hg19UCSC Ensembl
Outerchr1:45148718..45187643hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3838886
hg1938886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925473
SamplesHG03824
Known GenesC1orf228
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585889
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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