A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640734



Internal ID6680820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49128563..49134391hg38UCSC Ensembl
chr17:47205925..47211753hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg385829
hg195829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15693214, essv15693212, essv15693213
SamplesNA18525, HG01878, NA18643
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640734
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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