A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15623136



Internal ID2650608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14765272..15181525hg38UCSC Ensembl
chr17:14668589..15084842hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38416254
hg19416254
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640046
Supporting Variants
SamplesHG02345
Known GenesCDRT7, CDRT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15623136
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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