A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14475427



Internal ID6624310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48018732..48026046hg38UCSC Ensembl
Innerchr12:48018764..48026014hg38UCSC Ensembl
Outerchr12:48018700..48026078hg38UCSC Ensembl
chr12:48412515..48419829hg19UCSC Ensembl
Innerchr12:48412547..48419797hg19UCSC Ensembl
Outerchr12:48412483..48419861hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg387315
hg197315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629428
Supporting Variants
SamplesNA20787
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14475427
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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