A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641030



Internal ID6681115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64757643..64818228hg38UCSC Ensembl
Innerchr17:64757691..64818181hg38UCSC Ensembl
Outerchr17:64757596..64818276hg38UCSC Ensembl
chr17:62753761..62814346hg19UCSC Ensembl
Innerchr17:62753809..62814299hg19UCSC Ensembl
Outerchr17:62753714..62814394hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3860586
hg1960586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15724776
SamplesHG00380
Known GenesLOC146880, MIR6080, PLEKHM1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641030
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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