A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647703



Internal ID7034443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37087553..37089466hg38UCSC Ensembl
Innerchr22:37087603..37089416hg38UCSC Ensembl
Outerchr22:37087466..37089553hg38UCSC Ensembl
chr22:37483593..37485506hg19UCSC Ensembl
Innerchr22:37483643..37485456hg19UCSC Ensembl
Outerchr22:37483506..37485593hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381914
hg191914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16420827, essv16420826
SamplesHG03115, NA19209
Known GenesTMPRSS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647703
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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