A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10315154



Internal ID316970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229275815..229278064hg38UCSC Ensembl
Innerchr1:229275818..229278062hg38UCSC Ensembl
Outerchr1:229275813..229278067hg38UCSC Ensembl
chr1:229411562..229413811hg19UCSC Ensembl
Innerchr1:229411565..229413809hg19UCSC Ensembl
Outerchr1:229411560..229413814hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382250
hg192250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589070
Supporting Variants
SamplesHG03123
Known GenesRAB4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10315154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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