A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10330261



Internal ID332077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234394180..234413960hg38UCSC Ensembl
Innerchr1:234394180..234413960hg38UCSC Ensembl
Outerchr1:234393680..234414460hg38UCSC Ensembl
chr1:234529926..234549706hg19UCSC Ensembl
Innerchr1:234529926..234549706hg19UCSC Ensembl
Outerchr1:234529426..234550206hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3819781
hg1919781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589170
Supporting Variants
SamplesHG02449
Known GenesTARBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10330261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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