A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15657254



Internal ID3142492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29953806..29964320hg38UCSC Ensembl
chr17:28280824..28291338hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3810515
hg1910515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640330
Supporting Variants
SamplesHG02769
Known GenesEFCAB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15657254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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