A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10053146



Internal ID1076867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108674059..108680683hg38UCSC Ensembl
Innerchr1:108674559..108680183hg38UCSC Ensembl
Outerchr1:108673059..108681683hg38UCSC Ensembl
chr1:109216681..109223305hg19UCSC Ensembl
Innerchr1:109217181..109222805hg19UCSC Ensembl
Outerchr1:109215681..109224305hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386625
hg196625
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587135
Supporting Variants
SamplesHG00699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10053146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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