A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586179



Internal ID6973699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59287755..59290114hg38UCSC Ensembl
Innerchr1:59287764..59290106hg38UCSC Ensembl
Outerchr1:59287747..59290123hg38UCSC Ensembl
chr1:59753427..59755786hg19UCSC Ensembl
Innerchr1:59753436..59755778hg19UCSC Ensembl
Outerchr1:59753419..59755795hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382360
hg192360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9942940, essv9942941, essv9942942
SamplesHG03385, HG03460, HG03470
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586179
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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