A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11648500



Internal ID1650316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148081293..148109003hg38UCSC Ensembl
chr4:149002444..149030154hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3827711
hg1927711
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602613
Supporting Variants
SamplesNA20510
Known GenesNR3C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11648500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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