A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587211



Internal ID6974638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112440916..112444999hg38UCSC Ensembl
Innerchr1:112440916..112444999hg38UCSC Ensembl
Outerchr1:112440595..112445222hg38UCSC Ensembl
chr1:112983538..112987621hg19UCSC Ensembl
Innerchr1:112983538..112987621hg19UCSC Ensembl
Outerchr1:112983217..112987844hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg384084
hg194084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10074819, essv10074821, essv10074820
SamplesNA18545, HG00689, NA19449
Known GenesCTTNBP2NL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587211
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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