A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12321855



Internal ID2323671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37819657..37855416hg38UCSC Ensembl
chr6:37787433..37823192hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3835760
hg1935760
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608721
Supporting Variants
SamplesHG01628
Known GenesZFAND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12321855
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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