A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373445



Internal ID375261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247024654..247106519hg38UCSC Ensembl
Innerchr1:247024654..247106519hg38UCSC Ensembl
Outerchr1:247024154..247107019hg38UCSC Ensembl
chr1:247187956..247269821hg19UCSC Ensembl
Innerchr1:247187956..247269821hg19UCSC Ensembl
Outerchr1:247187456..247270321hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3881866
hg1981866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589503
Supporting Variants
SamplesNA20863
Known GenesZNF669, ZNF670, ZNF670-ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373445
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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