A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15624647



Internal ID5626464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15384024..15578696hg38UCSC Ensembl
chr17:15287341..15482010hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38194673
hg19194670
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640071
Supporting Variants
SamplesHG01896
Known GenesCDRT1, CDRT4, TVP23C, TVP23C-CDRT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15624647
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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