A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10317509



Internal ID319325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230704005..230706874hg38UCSC Ensembl
Innerchr1:230704055..230706824hg38UCSC Ensembl
Outerchr1:230703935..230706944hg38UCSC Ensembl
chr1:230839751..230842620hg19UCSC Ensembl
Innerchr1:230839801..230842570hg19UCSC Ensembl
Outerchr1:230839681..230842690hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382870
hg192870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589098
Supporting Variants
SamplesHG00557
Known GenesAGT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10317509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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