A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641448



Internal ID7028222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83017441..83039163hg38UCSC Ensembl
chr17:80975317..80997039hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3821723
hg1921723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771178, essv15771180, essv15771175, essv15771181, essv15771179, essv15771176, essv15771177
SamplesHG00634, HG00610, HG00629, HG00266, HG00596, HG00404, HG00112
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641448
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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