A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716485



Internal ID5718301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61273642..61278952hg38UCSC Ensembl
Innerchr17:61273675..61278920hg38UCSC Ensembl
Outerchr17:61273610..61278985hg38UCSC Ensembl
chr17:59351003..59356313hg19UCSC Ensembl
Innerchr17:59351036..59356281hg19UCSC Ensembl
Outerchr17:59350971..59356346hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg385311
hg195311
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640948
Supporting Variants
SamplesHG00464
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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