A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15726491



Internal ID2863733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66989016..66989959hg38UCSC Ensembl
Innerchr17:66989017..66989959hg38UCSC Ensembl
Outerchr17:66989016..66989960hg38UCSC Ensembl
chr17:64985132..64986075hg19UCSC Ensembl
Innerchr17:64985133..64986075hg19UCSC Ensembl
Outerchr17:64985132..64986076hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641076
Supporting Variants
SamplesHG02541
Known GenesCACNG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15726491
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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