A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629436



Internal ID6669576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48320207..48364691hg38UCSC Ensembl
chr12:48713990..48758474hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3844485
hg1944485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14476226
SamplesNA18563
Known GenesH1FNT, ZNF641
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629436
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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