A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629765



Internal ID7016586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64005555..64012304hg38UCSC Ensembl
chr12:64399335..64406084hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg386750
hg196750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14514533
SamplesHG01702
Known GenesSRGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629765
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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