A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628348



Internal ID7015172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3551258..3597740hg38UCSC Ensembl
Innerchr12:3551408..3597590hg38UCSC Ensembl
Outerchr12:3551108..3597890hg38UCSC Ensembl
chr12:3660424..3706906hg19UCSC Ensembl
Innerchr12:3660574..3706756hg19UCSC Ensembl
Outerchr12:3660274..3707056hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3846483
hg1946483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e214
Supporting Variantsessv14339706, essv14339708, essv14339707, essv14339709, essv14339710
SamplesNA20759, HG03120, HG02322, HG00623, HG01357
Known GenesPRMT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628348
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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