A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436761



Internal ID14937028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29409452..29410950hg38UCSC Ensembl
Innerchr12:29409950..29410452hg38UCSC Ensembl
Outerchr12:29408452..29411950hg38UCSC Ensembl
chr12:29562385..29563883hg19UCSC Ensembl
Innerchr12:29562883..29563385hg19UCSC Ensembl
Outerchr12:29561385..29564883hg19UCSC Ensembl
chr12:29453652..29455150hg18UCSC Ensembl
Innerchr12:29454652..29454150hg18UCSC Ensembl
Outerchr12:29452652..29456150hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688669
SamplesNA19238
Known GenesOVCH1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436761
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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