A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566077



Internal ID6690773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1092989..1093038hg38UCSC Ensembl
chr4:1086777..1086826hg19UCSC Ensembl
chr4:1076777..1076826hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996519
Supporting Variants
SamplesHuRef
Known GenesRNF212
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566077
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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