A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10012242



Internal ID4140377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:90541065..90572234hg38UCSC Ensembl
Innerchr1:90541078..90572222hg38UCSC Ensembl
Outerchr1:90541053..90572247hg38UCSC Ensembl
chr1:91006622..91037791hg19UCSC Ensembl
Innerchr1:91006635..91037779hg19UCSC Ensembl
Outerchr1:91006610..91037804hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3831170
hg1931170
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586780
Supporting Variants
SamplesHG03750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10012242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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