A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14485839



Internal ID2034606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55493313..55506308hg38UCSC Ensembl
Innerchr12:55493313..55506308hg38UCSC Ensembl
Outerchr12:55492813..55506808hg38UCSC Ensembl
chr12:55887097..55900092hg19UCSC Ensembl
Innerchr12:55887097..55900092hg19UCSC Ensembl
Outerchr12:55886597..55900592hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3812996
hg1912996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629579
Supporting Variants
SamplesHG01866
Known GenesOR6C68
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14485839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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