A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309192



Internal ID2035016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225848583..225865586hg38UCSC Ensembl
Innerchr1:225848589..225865581hg38UCSC Ensembl
Outerchr1:225848578..225865592hg38UCSC Ensembl
chr1:226036284..226053286hg19UCSC Ensembl
Innerchr1:226036290..226053281hg19UCSC Ensembl
Outerchr1:226036279..226053292hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3817004
hg1917003
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589003
Supporting Variants
SamplesHG01866
Known GenesTMEM63A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309192
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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