A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14624277



Internal ID3462684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125157944..125168573hg38UCSC Ensembl
Innerchr12:125158444..125168073hg38UCSC Ensembl
Outerchr12:125156944..125169573hg38UCSC Ensembl
chr12:125642490..125653119hg19UCSC Ensembl
Innerchr12:125642990..125652619hg19UCSC Ensembl
Outerchr12:125641490..125654119hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810630
hg1910630
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631036
Supporting Variants
SamplesHG03084
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14624277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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