A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10836941



Internal ID868416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211919459..211963114hg38UCSC Ensembl
chr2:212784184..212827839hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3843656
hg1943656
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594186
Supporting Variants
SamplesHG00458
Known GenesERBB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10836941
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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