A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10850503



Internal ID852319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218316567..218347668hg38UCSC Ensembl
chr2:219181290..219212391hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3831102
hg1931102
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594336
Supporting Variants
SamplesHG02050
Known GenesMIR6810, PNKD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10850503
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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