A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12560842



Internal ID4493315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136399743..136416482hg38UCSC Ensembl
chr6:136720881..136737620hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3816740
hg1916740
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610914
Supporting Variants
SamplesHG03995
Known GenesMAP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12560842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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