A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585856



Internal ID6973376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42827204..42828897hg38UCSC Ensembl
Innerchr1:42827213..42828889hg38UCSC Ensembl
Outerchr1:42827196..42828906hg38UCSC Ensembl
chr1:43292875..43294568hg19UCSC Ensembl
Innerchr1:43292884..43294560hg19UCSC Ensembl
Outerchr1:43292867..43294577hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9920892, essv9920891
SamplesHG03743, HG03684
Known GenesERMAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585856
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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