A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929353



Internal ID1916848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52204660..52210084hg38UCSC Ensembl
Innerchr1:52204686..52210058hg38UCSC Ensembl
Outerchr1:52204634..52210110hg38UCSC Ensembl
chr1:52670332..52675756hg19UCSC Ensembl
Innerchr1:52670358..52675730hg19UCSC Ensembl
Outerchr1:52670306..52675782hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385425
hg195425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586047
Supporting Variants
SamplesHG01795
Known GenesZFYVE9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929353
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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