A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15631581



Internal ID5633397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16758132..16801139hg38UCSC Ensembl
chr17:16661446..16704453hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3843008
hg1943008
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640115
Supporting Variants
SamplesNA19652
Known GenesCCDC144A, FAM106CP, USP32P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15631581
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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