A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657256



Internal ID4062576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29953806..29964320hg38UCSC Ensembl
chr17:28280824..28291338hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3810515
hg1910515
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640331
Supporting Variants
SamplesHG03697
Known GenesEFCAB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657256
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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