A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12350931



Internal ID2352747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52379078..52424700hg38UCSC Ensembl
chr6:52243876..52289498hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3845623
hg1945623
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608996
Supporting Variants
SamplesHG03052
Known GenesEFHC1, PAQR8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12350931
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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