A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9874802



Internal ID4613905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17157609..17188093hg38UCSC Ensembl
Innerchr1:17157610..17188092hg38UCSC Ensembl
Outerchr1:17157608..17188094hg38UCSC Ensembl
chr1:17484104..17514588hg19UCSC Ensembl
Innerchr1:17484105..17514587hg19UCSC Ensembl
Outerchr1:17484103..17514589hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3830485
hg1930485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585361
Supporting Variants
SamplesHG04146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9874802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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