A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12619501



Internal ID2621317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161814032..161848545hg38UCSC Ensembl
chr6:162235064..162269577hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3834514
hg1934514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611475
Supporting Variants
SamplesNA20754
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12619501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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