A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9889290



Internal ID3828994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22264567..22267710hg38UCSC Ensembl
Innerchr1:22264592..22267685hg38UCSC Ensembl
Outerchr1:22264542..22267735hg38UCSC Ensembl
chr1:22591060..22594203hg19UCSC Ensembl
Innerchr1:22591085..22594178hg19UCSC Ensembl
Outerchr1:22591035..22594228hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383144
hg193144
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585467
Supporting Variants
SamplesHG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9889290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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