A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585249



Internal ID6972773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12841517..12861395hg38UCSC Ensembl
chr1:12901370..12921250hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819879
hg1919881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e214
Supporting Variantsessv9858711, essv9858710, essv9858709, essv9858708, essv9858712
SamplesHG00610, NA18949, NA10847, HG00707, NA18622
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585249
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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