A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12327725



Internal ID2329541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41332396..41397584hg38UCSC Ensembl
chr6:41300134..41365322hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3865189
hg1965189
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608790
Supporting Variants
SamplesHG03782
Known GenesNCR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12327725
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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