A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585887



Internal ID6626201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44554245..44557619hg38UCSC Ensembl
Innerchr1:44554245..44557619hg38UCSC Ensembl
Outerchr1:44553745..44558119hg38UCSC Ensembl
chr1:45019917..45023291hg19UCSC Ensembl
Innerchr1:45019917..45023291hg19UCSC Ensembl
Outerchr1:45019417..45023791hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925166, essv9925165, essv9925167
SamplesHG00543, HG03077, NA19092
Known GenesRNF220
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585887
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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