A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470758



Internal ID472574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39477937..39703205hg38UCSC Ensembl
chr2:39705078..39930345hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38225269
hg19225268
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590433
Supporting Variants
SamplesHG02070
Known GenesLOC728730, TMEM178A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470758
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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