A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716484



Internal ID5718300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61254600..61257244hg38UCSC Ensembl
Innerchr17:61254650..61257194hg38UCSC Ensembl
Outerchr17:61254550..61257294hg38UCSC Ensembl
chr17:59331961..59334605hg19UCSC Ensembl
Innerchr17:59332011..59334555hg19UCSC Ensembl
Outerchr17:59331911..59334655hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382645
hg192645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640947
Supporting Variants
SamplesNA18636
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716484
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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