A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589093



Internal ID6629384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230482037..231277190hg38UCSC Ensembl
Innerchr1:230482187..231277040hg38UCSC Ensembl
Outerchr1:230481887..231277340hg38UCSC Ensembl
chr1:230617783..231412936hg19UCSC Ensembl
Innerchr1:230617933..231412786hg19UCSC Ensembl
Outerchr1:230617633..231413086hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38795154
hg19795154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10317504
SamplesHG01089
Known GenesAGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, FAM89A, GNPAT, LOC149373, MIR1182, TRIM67, TTC13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589093
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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