A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628677



Internal ID7015501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15746362..15753566hg38UCSC Ensembl
Innerchr12:15746363..15753565hg38UCSC Ensembl
Outerchr12:15746361..15753567hg38UCSC Ensembl
chr12:15899296..15906500hg19UCSC Ensembl
Innerchr12:15899297..15906499hg19UCSC Ensembl
Outerchr12:15899295..15906501hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387205
hg197205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14395281, essv14395277, essv14395278, essv14395274, essv14395280, essv14395282, essv14395284, essv14395283, essv14395275, essv14395276, essv14395279
SamplesHG03175, NA19314, NA19448, NA20317, HG02922, HG02571, NA20318, NA19451, NA19455, HG02837, NA19310
Known GenesEPS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628677
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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