A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587118



Internal ID6627425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107909082..107915511hg38UCSC Ensembl
Innerchr1:107909122..107915471hg38UCSC Ensembl
Outerchr1:107909042..107915551hg38UCSC Ensembl
chr1:108451704..108458133hg19UCSC Ensembl
Innerchr1:108451744..108458093hg19UCSC Ensembl
Outerchr1:108451664..108458173hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386430
hg196430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10051650, essv10051649, essv10051651
SamplesHG04001, HG03787, HG03731
Known GenesVAV3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587118
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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