A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716471



Internal ID5718287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61116673..61119846hg38UCSC Ensembl
Innerchr17:61116713..61119807hg38UCSC Ensembl
Outerchr17:61116634..61119886hg38UCSC Ensembl
chr17:59194034..59197207hg19UCSC Ensembl
Innerchr17:59194074..59197168hg19UCSC Ensembl
Outerchr17:59193995..59197247hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383174
hg193174
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640943
Supporting Variants
SamplesHG04100
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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