A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10074819



Internal ID1063550
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587211
Supporting Variants
SamplesHG00689
Known GenesCTTNBP2NL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10074819
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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