A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10839615



Internal ID4578188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212446905..212479833hg38UCSC Ensembl
chr2:213311629..213344557hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3832929
hg1932929
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594206
Supporting Variants
SamplesHG04093
Known GenesERBB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10839615
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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