A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637605



Internal ID6677708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1160548..1168281hg38UCSC Ensembl
Innerchr16:1160548..1168281hg38UCSC Ensembl
Outerchr16:1160048..1168781hg38UCSC Ensembl
chr16:1210548..1218281hg19UCSC Ensembl
Innerchr16:1210548..1218281hg19UCSC Ensembl
Outerchr16:1210048..1218781hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387734
hg197734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15359353, essv15359354
SamplesNA20296, HG00306
Known GenesCACNA1H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637605
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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