A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15722768



Internal ID6610264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63897399..63912563hg38UCSC Ensembl
Innerchr17:63897899..63912063hg38UCSC Ensembl
Outerchr17:63896399..63913563hg38UCSC Ensembl
chr17:61974759..61989923hg19UCSC Ensembl
Innerchr17:61975259..61989423hg19UCSC Ensembl
Outerchr17:61973759..61990923hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3815165
hg1915165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641018
Supporting Variants
SamplesNA20775
Known GenesCSHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15722768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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