A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10403910



Internal ID405726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6929016..6934529hg38UCSC Ensembl
Innerchr2:6929016..6934529hg38UCSC Ensembl
Outerchr2:6928815..6934742hg38UCSC Ensembl
chr2:7069147..7074660hg19UCSC Ensembl
Innerchr2:7069147..7074660hg19UCSC Ensembl
Outerchr2:7068946..7074873hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg385514
hg195514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589736
Supporting Variants
SamplesHG01864
Known GenesRNF144A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10403910
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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