A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12619454



Internal ID2621270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161777265..161817924hg38UCSC Ensembl
chr6:162198297..162238956hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3840660
hg1940660
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611470
Supporting Variants
SamplesHG00280
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12619454
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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