A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15720715



Internal ID1975291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63278471..63282919hg38UCSC Ensembl
Innerchr17:63278499..63282891hg38UCSC Ensembl
Outerchr17:63278443..63282947hg38UCSC Ensembl
chr17:61355832..61360280hg19UCSC Ensembl
Innerchr17:61355860..61360252hg19UCSC Ensembl
Outerchr17:61355804..61360308hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg384449
hg194449
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640987
Supporting Variants
SamplesHG01841
Known GenesTANC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15720715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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