A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15764859



Internal ID1829414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82004756..82015461hg38UCSC Ensembl
chr17:79962632..79973337hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810706
hg1910706
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641413
Supporting Variants
SamplesHG01700
Known GenesASPSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15764859
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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