A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630441



Internal ID7017259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95901150..95911779hg38UCSC Ensembl
Innerchr12:95901165..95911765hg38UCSC Ensembl
Outerchr12:95901136..95911794hg38UCSC Ensembl
chr12:96294928..96305557hg19UCSC Ensembl
Innerchr12:96294943..96305543hg19UCSC Ensembl
Outerchr12:96294914..96305572hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810630
hg1910630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295e214
Supporting Variantsessv14577991
SamplesHG02687
Known GenesCCDC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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