A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15648344



Internal ID3438423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20341058..20412416hg38UCSC Ensembl
chr17:20244371..20315729hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3871359
hg1971359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640198
Supporting Variants
SamplesHG03072
Known GenesCCDC144CP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15648344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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