A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679292



Internal ID5681108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43361371..43577834hg38UCSC Ensembl
chr17:41438739..41655202hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38216464
hg19216464
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640625
Supporting Variants
SamplesNA20753
Known GenesARL4D, DHX8, ETV4, LINC00910, MIR2117
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679292
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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