A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621974



Internal ID2098170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123808169..123815279hg38UCSC Ensembl
Innerchr12:123808169..123815279hg38UCSC Ensembl
Outerchr12:123807669..123815779hg38UCSC Ensembl
chr12:124292716..124299826hg19UCSC Ensembl
Innerchr12:124292716..124299826hg19UCSC Ensembl
Outerchr12:124292216..124300326hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387111
hg197111
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630996
Supporting Variants
SamplesHG01912
Known GenesDNAH10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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