A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470755



Internal ID1914953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39469303..39474731hg38UCSC Ensembl
Innerchr2:39469323..39474711hg38UCSC Ensembl
Outerchr2:39469283..39474751hg38UCSC Ensembl
chr2:39696444..39701872hg19UCSC Ensembl
Innerchr2:39696464..39701852hg19UCSC Ensembl
Outerchr2:39696424..39701892hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg385429
hg195429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590431
Supporting Variants
SamplesHG01794
Known GenesLOC728730
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470755
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer