A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571797



Internal ID6838959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93920169..93969642hg38UCSC Ensembl
Innerchr12:93920319..93969492hg38UCSC Ensembl
Outerchr12:93920019..93969792hg38UCSC Ensembl
chr12:94313945..94363418hg19UCSC Ensembl
Innerchr12:94314095..94363268hg19UCSC Ensembl
Outerchr12:94313795..94363568hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3849474
hg1949474
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630408
Supporting Variants
SamplesNA20906
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571797
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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