A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15744091



Internal ID3948974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76429438..76431414hg38UCSC Ensembl
Innerchr17:76429471..76431381hg38UCSC Ensembl
Outerchr17:76429405..76431447hg38UCSC Ensembl
chr17:74425520..74427496hg19UCSC Ensembl
Innerchr17:74425553..74427463hg19UCSC Ensembl
Outerchr17:74425487..74427529hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381977
hg191977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641287
Supporting Variants
SamplesHG03600
Known GenesUBE2O
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15744091
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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