A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285488



Internal ID287304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211945914..212035544hg38UCSC Ensembl
chr1:212119256..212208886hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3889631
hg1989631
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588741
Supporting Variants
SamplesHG01870
Known GenesINTS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285488
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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