A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585891



Internal ID6626205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44709443..44710447hg38UCSC Ensembl
Innerchr1:44709443..44710447hg38UCSC Ensembl
Outerchr1:44709214..44710749hg38UCSC Ensembl
chr1:45175115..45176119hg19UCSC Ensembl
Innerchr1:45175115..45176119hg19UCSC Ensembl
Outerchr1:45174886..45176421hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925476, essv9925475
SamplesHG02259, HG00640
Known GenesC1orf228
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585891
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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