A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12387757



Internal ID2656892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61722336..61754326hg38UCSC Ensembl
chr6:62432241..62464231hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3831991
hg1931991
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609215
Supporting Variants
SamplesHG02351
Known GenesKHDRBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12387757
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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