A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10382384



Internal ID384200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248845727..248891678hg38UCSC Ensembl
chr1:249139926..249185877hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3845952
hg1945952
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589576
Supporting Variants
SamplesNA20868
Known GenesZNF672, ZNF692
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10382384
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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