A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14526103



Internal ID1373632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71173406..71181031hg38UCSC Ensembl
Innerchr12:71173424..71181014hg38UCSC Ensembl
Outerchr12:71173389..71181049hg38UCSC Ensembl
chr12:71567186..71574811hg19UCSC Ensembl
Innerchr12:71567204..71574794hg19UCSC Ensembl
Outerchr12:71567169..71574829hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg387626
hg197626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629909
Supporting Variants
SamplesHG01242
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14526103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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