A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10051649



Internal ID53465
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587118
Supporting Variants
SamplesHG03731
Known GenesVAV3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10051649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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