A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716464



Internal ID5718280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61041388..61051427hg38UCSC Ensembl
Innerchr17:61041388..61051427hg38UCSC Ensembl
Outerchr17:61041170..61051684hg38UCSC Ensembl
chr17:59118749..59128788hg19UCSC Ensembl
Innerchr17:59118749..59128788hg19UCSC Ensembl
Outerchr17:59118531..59129045hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810040
hg1910040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640942
Supporting Variants
SamplesNA11894
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716464
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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