A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10312336



Internal ID4656862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227689039..227704063hg38UCSC Ensembl
Innerchr1:227689039..227704063hg38UCSC Ensembl
Outerchr1:227688539..227704563hg38UCSC Ensembl
chr1:227876740..227891764hg19UCSC Ensembl
Innerchr1:227876740..227891764hg19UCSC Ensembl
Outerchr1:227876240..227892264hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3815025
hg1915025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589039
Supporting Variants
SamplesHG04185
Known GenesZNF847P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10312336
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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