A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10312413



Internal ID314229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228180819..228184966hg38UCSC Ensembl
Innerchr1:228180846..228184940hg38UCSC Ensembl
Outerchr1:228180793..228184993hg38UCSC Ensembl
chr1:228368520..228372667hg19UCSC Ensembl
Innerchr1:228368547..228372641hg19UCSC Ensembl
Outerchr1:228368494..228372694hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589046
Supporting Variants
SamplesHG03821
Known GenesIBA57
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10312413
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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