A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15716222



Internal ID5718038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60761708..60772253hg38UCSC Ensembl
Innerchr17:60762208..60771753hg38UCSC Ensembl
Outerchr17:60760708..60773253hg38UCSC Ensembl
chr17:58839069..58849614hg19UCSC Ensembl
Innerchr17:58839569..58849114hg19UCSC Ensembl
Outerchr17:58838069..58850614hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810546
hg1910546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640934
Supporting Variants
SamplesHG03673
Known GenesBCAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15716222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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