A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571767



Internal ID4573583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93803619..93809137hg38UCSC Ensembl
Innerchr12:93803619..93809137hg38UCSC Ensembl
Outerchr12:93803597..93809174hg38UCSC Ensembl
chr12:94197395..94202913hg19UCSC Ensembl
Innerchr12:94197395..94202913hg19UCSC Ensembl
Outerchr12:94197373..94202950hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385519
hg195519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630403
Supporting Variants
SamplesHG01968
Known GenesCRADD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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