A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716127



Internal ID5717943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60709480..60710536hg38UCSC Ensembl
Innerchr17:60709531..60710485hg38UCSC Ensembl
Outerchr17:60709429..60710587hg38UCSC Ensembl
chr17:58786841..58787897hg19UCSC Ensembl
Innerchr17:58786892..58787846hg19UCSC Ensembl
Outerchr17:58786790..58787948hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381057
hg191057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640932
Supporting Variants
SamplesHG02355
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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