A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14519700



Internal ID1656409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67341424..67356165hg38UCSC Ensembl
Innerchr12:67341424..67356165hg38UCSC Ensembl
Outerchr12:67340924..67356665hg38UCSC Ensembl
chr12:67735204..67749945hg19UCSC Ensembl
Innerchr12:67735204..67749945hg19UCSC Ensembl
Outerchr12:67734704..67750445hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3814742
hg1914742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629828
Supporting Variants
SamplesHG01522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14519700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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